Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

The role of timed items, and more specifically, of the time to rise from the floor, has been reported as an early prognostic factor for disease progression and loss of ambulation. The aim of our study was to investigate the possible effect of the time to rise from the floor test on the changes observed on the 6MWT over 12 months in a cohort of ambulant Duchenne boys.A total of 487 12-month data points were collected from 215 ambulant Duchenne boys. The age ranged between 5.0 and 20.0 years (mean 8.48 ±2.48 DS).The results of the time to rise from the floor at baseline ranged from 1.2 to 29.4 seconds in the boys who could perform the test. 49 patients were unable to perform the test at baseline and 87 at 12 month The 6MWT values ranged from 82 to 567 meters at baseline. 3 patients lost the ability to perform the 6mwt at 12 months. The correlation between time to rise from the floor and 6MWT at baseline was high (r = 0.6, p<0.01).Both time to rise from the floor and baseline 6MWT were relevant for predicting 6MWT changes in the group above the age of 7 years, with no interaction between the two measures, as the impact of time to rise from the floor on 6MWT change was similar in the patients below and above 350 m. Our results suggest that, time to rise from the floor can be considered an additional important prognostic factor of 12 month changes on the 6MWT and, more generally, of disease progression

La "compilation soundtrack" nel cinema sonoro italiano

The issue addresses the compilation soundtrack in the Italian sound cinem

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy

Systematic versus on-demand early palliative care: results from a multicentre, randomised clinical trial

Background Early palliative care (EPC) in oncology has been shown to have a positive impact on clinical outcome, quality-of-care outcomes, and costs. However, the optimal way for activating EPC has yet to be defined. Methods This prospective, multicentre, randomised study was conducted on 207 outpatients with metastatic or locally advanced inoperable pancreatic cancer. Patients were randomised to receive ‘standard cancer care plus on-demand EPC’ (n&nbsp;=&nbsp;100) or ‘standard cancer care plus systematic EPC’ (n&nbsp;=&nbsp;107). Primary outcome was change in quality of life (QoL) evaluated through the Functional Assessment of Cancer Therapy – Hepatobiliary questionnaire between baseline (T0) and after 12 weeks (T1), in particular the integration of physical, functional, and Hepatic Cancer Subscale (HCS) combined in the Trial Outcome Index (TOI). Patient mood, survival, relatives' satisfaction with care, and indicators of aggressiveness of care were also evaluated. Findings The mean changes in TOI score and HCS score between T0 and T1 were −4.47 and −0.63, with a difference between groups of 3.83 (95% confidence interval [CI] 0.10–7.57) (p&nbsp;=&nbsp;0.041), and −2.23 and 0.28 (difference between groups of 2.51, 95% CI 0.40–4.61, p&nbsp;=&nbsp;0.013), in favour of interventional group. QoL scores at T1 of TOI scale and HCS were 84.4 versus 78.1 (p&nbsp;=&nbsp;0.022) and 52.0 versus 48.2 (p&nbsp;=&nbsp;0.008), respectively, for interventional and standard arm. Until February 2016, 143 (76.9%) of the 186 evaluable patients had died. There was no difference in overall survival between treatment arms. Interpretations Systematic EPC in advanced pancreatic cancer patients significantly improved QoL with respect to on-demand EPC

Programa intensivo ERASMUS: TOPCART. Documentación Geométrica del Patrimonio (memoria de actividades 2010-2011)

[EN] Data contained in this record come from the following accademic activity (from which it is possible to locate additional records related with the Monastery):● LDGP_inv_002: "Intensive Program ERASMUS: TOPCART. Geometric Documentation of the Heritage (administrative and academic documentation)", http://hdl.handle.net/10810/9906[ES] Los datos de este registro provienen de la una actividad académica que también aparece descrita en el repositorio y desde donde se puede acceder a otros trabajos relacionados con el Monasterio:● LDGP_inv_002: "Programa intensivo ERASMUS: TOPCART. Documentación Geométrica del Patrimonio (documentación administrativa y académica)", http://hdl.handle.net/10810/9906[EN] The main objective this project is looking for is the exchange of practical methodologies, in topics related with the measure and representation of heritage, between teachers and specially students from different countries. For the achievement of this aim we expect the participation of a group of about 30 students and 8 lecturers from Germany, Italy, Greece, Lithuania and Spain.Activities will be focused on the development of concrete projects in documentation of heritage, specifically in the San Prudencio Monastery (La Rioja, Spain). In this site, digital techniques for the acquisition of geometric information from GPS equipment, surveying total stations, laser scanner and photogrammetry systems, will be put into practice.Obtained data will be processed as follows: first of all, they will be documented by adding necessary metadata in order to ensure their use in the future, then, they will be treated to obtain cartographic representations and virtual models which can be distributed on the Internet.As results we expect: metric data of the monument, graphic models for difussion and collaboration partnertships.[ES] El objetivo principal que se persigue en este proyecto es el intercambio de metodológico práctico, en materias afines a la medida y la representación del patrimonio, entre profesores y fundamentalmente alumnos, de diferentes países. Para la consecución de este fin se espera la participación de un grupo de aproximadamente 25 alumnos y 8 profesores de (Alemania, Italia, Grecia, Lituania y España).Las actividades se centrarán en el desarrollo de proyectos concretos de documentación de elementos patrimoniales, en concreto el apartado práctico se desarrollará en el Monasterio de San Prudencio (La Rioja, España). En el se aplicarán técnicas digitales de registro de información geométrica, constituidas por receptores GPS, estaciones totales topográficas, escáneres láser y sistemas fotogramétricos.Los datos obtenidos serán tratados de la siguiente manera: en primer lugar serán documentados, mediante la adición de la metainformación necesaria para garantizar su utilidad a lo largo del tiempo, seguidamente serán procesados con el fin de obtener las representaciones cartográficas y modelos virtuales de representación que puedan ser difundidas por medio de Internet.Como resultados se pretenden: un conjunto de registros métricos del momento de la intervención, modelos gráficos de difusión y finalmente relaciones de colaboración interpersonal e interinstitucional.European Commission, DG Education and Culture (Erasmus 2009-1-ES1-ERAIP-0013, 2010-1-ES1-ERA10-0024); Organismo Autónomo Programas Educativos Europeos (OAPEE); Gobierno de La Rioja (Spain); Universidad de La Rioja; Clavijo City Council; Logroño City Council; Ilustre Colegio de Ingenieros Técnicos en Topografía (Delegación de La Rioja)[ES] Memoria de proyecto (PDF) [es el último fichero de la lista, el enlace directo es https://addi.ehu.es/bitstream/10810/7053/1053/ldgp_mem011-1_Clavijo_SanPrudencio.pdf] + 11 imágenes de la visita preliminar en abril de 2009, en formato JPEG + 19 nubes de puntos en formato txt (comprimido en ZIP junto a un fichero de metadatos y una imagen que sirve de croquis y que también se presenta suelta) + 27 fotografías tomadas desde un helicóptero radicontrolado en 2011 por el grupo H (JPEG) + 18 fotografías métricas del edificio en forma de -L- tomadas desde el Sur + 13 fotografías métricas del edificio en forma de -L- tomadas desde el Este + 95 fotografías métricas del interior del edificio en forma de -L- (JPEG) + 35 fotografías métricas tomadas desde el cerro que se encuentra al sur (JPEG) + 8 fotografías métricas que forman 4 pares estereoscópicos (2 del grupo B y 2 del grupo D) (JPEG) + 183 fotografías métricas que forman 91 tripletas (grupos B, C y D) (JPEG). [NOTA: este registro no está cerrado, se irán incorporando nuevos materiales de forma progresiva][EN] General report (PDF) [it is the last file of the list, the direct link is https://addi.ehu.es/bitstream/10810/7053/1053/ldgp_mem011-1_Clavijo_SanPrudencio.pdf] + 11 pictures taken during the preliminary visit in April 2009 (JPEG format) + 19 point clouds in plain text (compressed in a ZIP file together with a file with metadata and an image PNG as sketch, these image are also presented on their own) + 27 photographs taken from a remote-controlled helicopter for the group H in 2011(JPEG) + 18 metric pictures of the L-shaped building taken from the South (JPEG) + 13 metric pictures of the L-shaped building taken from the East (JPEG) + 95 metric pictures of the inside part of the L-shaped building (JPEG) + 35 metric photographs taken from the hill opposite in the Southern + 8 metric photographs in four stereopairs (2 from group B and 2 from group D) (JPEG) + 183 metric photographs arranged in 91 triplets from groups B, C and D (JPEG). [NOTE: this record is not closed, more data will be uploaded progressively

The Changing Landscape for Stroke\ua0Prevention in AF: Findings From the GLORIA-AF Registry Phase 2

Background GLORIA-AF (Global Registry on Long-Term Oral Antithrombotic Treatment in Patients with Atrial Fibrillation) is a prospective, global registry program describing antithrombotic treatment patterns in patients with newly diagnosed nonvalvular atrial fibrillation at risk of stroke. Phase 2 began when dabigatran, the first non\u2013vitamin K antagonist oral anticoagulant (NOAC), became available. Objectives This study sought to describe phase 2 baseline data and compare these with the pre-NOAC era collected during phase&nbsp;1. Methods During phase 2, 15,641 consenting patients were enrolled (November 2011 to December 2014); 15,092 were eligible. This pre-specified cross-sectional analysis describes eligible patients\u2019 baseline characteristics. Atrial fibrillation&nbsp;disease characteristics, medical outcomes, and concomitant diseases and medications were collected. Data were analyzed using descriptive statistics. Results Of the total patients, 45.5% were female; median age was 71 (interquartile range: 64, 78) years. Patients were from Europe (47.1%), North America (22.5%), Asia (20.3%), Latin America (6.0%), and the Middle East/Africa (4.0%). Most had high stroke risk (CHA2DS2-VASc [Congestive heart failure, Hypertension, Age&nbsp; 6575 years, Diabetes mellitus, previous Stroke, Vascular disease, Age 65 to 74 years, Sex category] score&nbsp; 652; 86.1%); 13.9% had moderate risk (CHA2DS2-VASc&nbsp;= 1). Overall, 79.9% received oral anticoagulants, of whom 47.6% received NOAC and 32.3% vitamin K antagonists (VKA); 12.1% received antiplatelet agents; 7.8% received no antithrombotic treatment. For comparison, the proportion of phase 1 patients (of N&nbsp;= 1,063 all eligible) prescribed VKA was 32.8%, acetylsalicylic acid 41.7%, and no therapy 20.2%. In Europe in phase 2, treatment with NOAC was more common than VKA (52.3% and 37.8%, respectively); 6.0% of patients received antiplatelet treatment; and 3.8% received no antithrombotic treatment. In North America, 52.1%, 26.2%, and 14.0% of patients received NOAC, VKA, and antiplatelet drugs, respectively; 7.5% received no antithrombotic treatment. NOAC use was less common in Asia (27.7%), where 27.5% of patients received VKA, 25.0% antiplatelet drugs, and 19.8% no antithrombotic treatment. Conclusions The baseline data from GLORIA-AF phase 2 demonstrate that in newly diagnosed nonvalvular atrial fibrillation patients, NOAC have been highly adopted into practice, becoming more frequently prescribed than VKA in&nbsp;Europe and North America. Worldwide, however, a large proportion of patients remain undertreated, particularly in&nbsp;Asia&nbsp;and North America. (Global Registry on Long-Term Oral Antithrombotic Treatment in Patients With Atrial Fibrillation [GLORIA-AF]; NCT01468701

Omecamtiv mecarbil in chronic heart failure with reduced ejection fraction, GALACTIC‐HF: baseline characteristics and comparison with contemporary clinical trials

Aims: The safety and efficacy of the novel selective cardiac myosin activator, omecamtiv mecarbil, in patients with heart failure with reduced ejection fraction (HFrEF) is tested in the Global Approach to Lowering Adverse Cardiac outcomes Through Improving Contractility in Heart Failure (GALACTIC‐HF) trial. Here we describe the baseline characteristics of participants in GALACTIC‐HF and how these compare with other contemporary trials. Methods and Results: Adults with established HFrEF, New York Heart Association functional class (NYHA) ≥ II, EF ≤35%, elevated natriuretic peptides and either current hospitalization for HF or history of hospitalization/ emergency department visit for HF within a year were randomized to either placebo or omecamtiv mecarbil (pharmacokinetic‐guided dosing: 25, 37.5 or 50 mg bid). 8256 patients [male (79%), non‐white (22%), mean age 65 years] were enrolled with a mean EF 27%, ischemic etiology in 54%, NYHA II 53% and III/IV 47%, and median NT‐proBNP 1971 pg/mL. HF therapies at baseline were among the most effectively employed in contemporary HF trials. GALACTIC‐HF randomized patients representative of recent HF registries and trials with substantial numbers of patients also having characteristics understudied in previous trials including more from North America (n = 1386), enrolled as inpatients (n = 2084), systolic blood pressure &lt; 100 mmHg (n = 1127), estimated glomerular filtration rate &lt; 30 mL/min/1.73 m2 (n = 528), and treated with sacubitril‐valsartan at baseline (n = 1594). Conclusions: GALACTIC‐HF enrolled a well‐treated, high‐risk population from both inpatient and outpatient settings, which will provide a definitive evaluation of the efficacy and safety of this novel therapy, as well as informing its potential future implementation

Produzione e controllo di efficacia di un vaccino vivo attenuato per l'ectima contagioso ovino

L’agente eziologico responsabile dell’ectima contagioso è il virus Orf, appartenente alla famiglia Poxviridae, genere Parapoxvirus. Negli allevamenti colpiti la morbilità raggiunge il 100 % mentre la mortalità è compresa tra l’1 e il 10 %. L’Istituto Zooprofilattico Sperimentale dell’Abruzzo e del Molise ‘G. Caporale’ (IZS A&M) ha prodotto, secondo Farmacopea Europea, un vaccino vivo attenuato contro l’ectima contagioso degli ovini. Il ceppo di campo utilizzato è stato attenuato mediante passaggi seriali su fibroblasti primari di embrioni di pollo e quindi liofilizzato a rappresentare la master seed dalla quale è stato allestito il vaccino. L’innocuità del vaccino è stata valutata, su 20 agnelli di età compresa tra 10 e 15 giorni e 20 pecore gestanti nel secondo periodo di gravidanza, per somministrazione di dose unica, 10 dosi e due dosi ripetute a distanza di una settimana l’una dall’altra, ogni singola dose pari ad 1 ml, somministrata per via intramuscolare, aveva titolo di 104,5TCID50. L’immunogenicità è stata valutata su 10 pecore 10 agnelli inoculati con la dose vaccinale e un gruppo di 5 agnelli e 5 pecore come controllo. Gli animali inoculati sono stati monitorati sierologicamente mediante ELISA indiretta. Al 30° giorno dalla vaccinazione gli animali sono stati sottoposti a challenge mediante inoculazione per via intradermica nella regione labiale di un ceppo di campo di ectima. Tutti gli animali vaccinati non hanno mostrato segni clinici a differenza dei controlli che hanno manifestato i segni clinici dell'ectima contagioso. Ad ulteriore conferma dell’efficacia del vaccino è stata condotta una sperimentazione in campo su quattro allevamenti con malattia in atto. Lo studio dell’evoluzione delle lesioni cliniche da ectima contagioso nei soggetti vaccinati ha evidenziato una rapida remissione della sintomatologia clinica

Production and efficacy of an attenuated live vaccine against contagious ovine ecthyma

Contagious ecthyma is caused by the orf virus, a member of the family Poxviridae, genus Parapoxvirus. Morbidity in affected sheep flocks is approximately 100%, while mortality varies between 1% and 10%. A live attenuated vaccine was produced by the Istituto Zooprofilattico Sperimentale dell’Abruzzo e del Molise ‘G. Caporale’. Quality control was performed in accordance with the European Pharmacopoeia. A wild virus strain was attenuated through serial passages on primary chicken embryo fibroblast tissue cultures. The virus suspension was treated according to standard procedures and freeze dried. The immunising dose was 1 ml containing 104,5TCID50, administered intramuscularly. The safety of the vaccine was successfully tested by intramuscular inoculation of 20 susceptible sheep and 20 lambs with the routine dose, 10 times the immunising dose and two normal doses administered at seven-day intervals. The efficacy of the vaccine was tested using three groups of susceptible animals. The first group included 10 lambs and the second 10 adult sheep; the animals were immunised intramuscularly with 1 ml of the reconstituted vaccine. The third group, used as controls, included five sheep and five lambs. Serological reactivity was monitored by indirect enzyme-linked immunosorbent assay (ELISA). The animals were challenged 30 days later with a pathogenic strain administered intradermally along the labial area. Vaccinated animals did not show any clinical signs of disease, whereas all the controls developed typical signs of contagious ecthyma. To confirm the efficacy of the vaccine, a field trial was conducted in four flocks affected by the disease. The trial showed that the vaccine was able to block the normal course of the disease and induce rapid recovery

Identification of Coagulase-Negative Staphylococci by Using the BD Phoenix System in the Low-Inoculum Mode▿

The new “low-inoculum” mode of the Phoenix system was evaluated to identify clinical coagulase-negative staphylococci. API ID32 Staph panels were used as comparators, and discrepancies were resolved by 16S rRNA and tuf gene analysis. The system correctly identified 90.5% of isolates, with a mean time of 10.2 h. Accuracy was satisfactory for Staphylococcus epidermidis, S. saprophyticus, and S. haemolyticus