An integrated approach in a case of facioscapulohumeral dystrophy

BACKGROUND: Muscle fatigue, weakness and atrophy are basilar clinical features that accompany facioscapulohumeral dystrophy (FSHD) the third most common muscular dystrophy.No therapy is available for FSHD. CASE PRESENTATION: We describe the effects of 6mo exercise therapy and nutritional supplementation in a 43-year-old woman severely affected by FSHD. CONCLUSION: A mixed exercise program combined with nutritional supplementation can be safely used with beneficial effects in selected patients with FSHD

The host micro-RNA cfa-miR-346 is induced in canine leishmaniasis

none8noBackground Leishmaniases are a group of anthropo-zoonotic parasitic diseases caused by a protozoan of the Leishmania genus, affecting both humans and other vertebrates, including dogs. L. infantum is responsible for the visceral and occasionally cutaneous form of the disease in humans and canine leishmaniasis. Previously, we have shown that L. infantum induces a mild but significant increase in endoplasmic reticulum (ER) stress expression markers to promote parasites survival in human and murine infected macrophages. Moreover, we demonstrated that the miRNA hsa-miR-346, induced by the UPR-activated transcription factor sXBP1, was significantly upregulated in human macrophages infected with different L. infantum strains. However, the ER stress response in infected dogs, which represent an important reservoir for Leishmania parasite, was described once recently, whereas the miR-346 expression was not reported before. Therefore, this study aimed to investigate these pathways in the canine macrophage-like cell line DH82 infected by Leishmania spp. and to evaluate the presence of cfa-miR-346 in plasma of non-infected and infected dogs. The DH82 cells were infected with L. infantum and L. braziliensis parasites and the expression of cfa-mir-346 and several ER stress markers was evaluated by quantitative PCR (qPCR) at different time points. Furthermore, the cfa-miR-346 was monitored in plasma collected from non-infected dogs (n = 11) and dogs naturally infected by L. infantum (n = 18). Results The results in DH82 cells showed that cfa-mir-346 was induced at both 24 h and 48 h post-infection with all Leishmania strains but not with tunicamycin, accounting for a mechanism of induction independent from sXBP1, unlike what was previously observed in human cell lines. Moreover, the cfa-miR-346 expression analysis on plasma revealed a significant increase in infected dogs compared to non-infected dogs. Conclusions Here for the first time, we report the upregulation of cfa-miR-346 induced by Leishmania infection in canine macrophage-like cells and plasma samples of naturally infected dogs. According to our results, the cfa-miR-346 appears to be linked to infection, and understanding its role and identifying its target genes could contribute to elucidate the mechanisms underlying the host–pathogen interaction in leishmaniasis.Buffi, Gloria; Diotallevi, Aurora; Ceccarelli, Marcello; Bruno, Federica; Castelli, Germano; Vitale, Fabrizio; Magnani, Mauro; Galluzzi, LucaBuffi, Gloria; Diotallevi, Aurora; Ceccarelli, Marcello; Bruno, Federica; Castelli, Germano; Vitale, Fabrizio; Magnani, Mauro; Galluzzi, Luc

Red mark syndrome: Is the aquaculture water microbiome a keystone for understanding the disease aetiology?

Aquaculture significantly contributes to the growing demand for food worldwide. However, diseases associated with intensive aquaculture conditions, especially the skin related syndromes, may have significant implications on fish health and industry. In farmed rainbow trout, red mark syndrome (RMS), which consists of multiple skin lesions, currently lacks recognized aetiological agents, and increased efforts are needed to elucidate the onset of these conditions. Most of the past studies were focused on analyzing skin lesions, but no study focused on water, a medium constantly interacting with fish. Indeed, water tanks are environmental niches colonized by microbial communities, which may be implicated in the onset of the disease. Here, we present the results of water and sediment microbiome analyses performed in an RMS-affected aquaculture facility, bringing new knowledge about the environmental microbiomes harbored under these conditions. On the whole, no significant differences in the bacterial community structure were reported in RMS-affected tanks compared to the RMS-free ones. However, we highlighted significant differences in microbiome composition when analyzing different samples source (i.e., water and sediments). Looking at the finer scale, we measured significant changes in the relative abundances of specific taxa in RMS-affected tanks, especially when analyzing water samples. Our results provide worthwhile insight into a mostly uncharacterized ecological scenario, aiding future studies on the aquaculture built environment for disease prevention and monitoring

Evaluation of a kDNA-Based qPCR Assay for the Detection and Quantification of Old World Leishmania Species

none10noThe parasite protozoan Leishmania, the causative agent of leishmaniasis, includes two subgenera of medical interest: Leishmania (Leishmania) and Leishmania (Viannia). Parasite species detection and characterization is crucial to choose treatment protocols and to monitor the disease evolution. Molecular approaches can speed up and simplify the diagnostic process. In particular, several molecular assays target the mitochondrial DNA minicircle network (kDNA) that characterizes the Leishmania genus. We previously proposed a qPCR assay targeting kDNA, followed by high resolution melt (HRM) analysis (qPCR-ML) to distinguish L. (L.) infantum and L. (L.) amazonensis from L. Viannia species. Successively, this assay has been integrated with other qPCR assays, to differentiate L. (L.) infantum, L. (L.) amazonensis and L. (L.) mexicana. In this work, we tested the applicability of our qPCR-ML assay on L. (L.) donovani, L. (L.) major, L. (L.) tropica and L. (L.) aethiopica, showing that the qPCR-ML assay can also amplify Old World species, different from L. (L.) infantum, with good quantification limits (1 × 10-4-1 × 10-6 ng/pcr tube). Moreover, we evaluated 11 L. (L.) infantum strains/isolates, evidencing the variability of the kDNA minicircle target molecules among the strains/isolates of the same species, and pointing out the possibility of quantification using different strains as reference. Taken together, these data account for the consideration of qPCR-ML as a quantitative pan-Leishmania assay.openCeccarelli, Marcello; Buffi, Gloria; Diotallevi, Aurora; Andreoni, Francesca; Bencardino, Daniela; Vitale, Fabrizio; Castelli, Germano; Bruno, Federica; Magnani, Mauro; Galluzzi, LucaCeccarelli, Marcello; Buffi, Gloria; Diotallevi, Aurora; Andreoni, Francesca; Bencardino, Daniela; Vitale, Fabrizio; Castelli, Germano; Bruno, Federica; Magnani, Mauro; Galluzzi, Luc

Evaluation of the effects of specific karate exercises during multilateral training in children of primary school

The early specialization in the development of sport skills is a point of discussion among researchers, even if the general trend is to encourage multilateral activities in children. The aim of this study was to evaluate the effect of specific karate exercises added during a program of multilateral exercises in a group of school age children. A sample of 82 primary school children (39 females, 6.4 ± 0.3 y and 43 males, 6.3 ± 0.3 y) were randomly assigned to two groups: Multilateral (MG) and Special (SG). MG was composed of 19 females (MGf, 6,4 ± 0,3 y) and 22 males (MGm, 6,3 ± 0,3 y), while SG was composed of 20 females (SGf, 6,3 ± 0,3 y) and 21 males (SGm, 6,4 ± 0,3 y). During the training period of eight weeks, the MG group has played only multilateral activities, while the SG group has also done specific exercises of Karate. At the end of the training period both groups were subjected to some physical evaluation test and the results was statistically analyzed (ANOVA). Although both groups (Mg and SG) have improved significantly (p < 0.05) compared to the initial stage, the comparison between the two groups (MG vs SG) has not revealed significant differences in relation to the considered motor skills (speed, agility, strength, coordination), with the exception of the ability of static balance, in which the SG group showed a significant improvement compared to the MG group (p = 0.019). In particular, the improvement appears to be due mainly to the female component (SGf vs MGf: p = 0,012; SGm vs MGm p = 0,20). The fact that the improvement was mainly dependent on the female group deserves future investigations The results seem to confirm the fact that the multilateral activities would be sufficient to improve motor skills in primary school children, although some neuromotor abilities could be improved through more specific exercises without creating particular damag

Análisis energético y estrategias de operación de una planta de trigeneración integrada en una red de distrito

En el marco del proyecto Polycity se construyó una planta de poligeneración de energía de alta eficiencia en un nuevo desarrollo urbano denominado Parc de l'Alba, en Cerdanyola del Vallès (Barcelona). Esta área incluye un Parque de Ciencia y Tecnología con el Laboratorio de Luz Sincrotrón (ALBA), así como edificios de bajo consumo energético. El proyecto se está ejecutando en diferentes pasos. En el primer paso, se construyó una planta de trigeneración basado en motores de cogeneración y en los siguientes pasos que se espera que aumente el número de motores en servicio e introducir una planta de refrigeración solar y un sistema de gasificación de biomasa para completar la planta de poligeneración. La planta de trigeneración ya existente proporciona electricidad, agua caliente y agua fría para el Sincrotrón y los edificios del parque tecnológico a través de una red con cuatro tubos de calefacción urbana y refrigeración. La planta ST-4 se compone de tres motores de gas de cogeneración de gas natural de 3,3 MW de potencia cada uno, una máquina de absorción de doble efecto de 5 MW accionada directamente con gases de escape, una máquina de absorción de simple efecto de 3 MW, y unidades auxiliares: una enfriadora de compresión de 5 MW, una caldera de gas natural de 5 MW. El sistema incluye también un depósito de almacenamiento de agua enfriada de 4.000 m3. En este artículo se presentará un análisis energético detallado de la planta utilizando datos de operación reales y se estudiaran diferentes estrategias de operación aplicando un software de optimización. Otro de los puntos a tratar es el cálculo de las prestaciones de la planta a baja carga ya que actualmente el número de usuarios conectados a la red de distrito es todavía bajo. El software utilizado es un desarrollo propio basado en GAMS como el lenguaje de programación para definir y resolver problemas de simulación y optimización. Los principales parámetros de funcionamiento de los componentes de la planta se introducen como entradas en la plataforma de optimización, además de la demanda de energía en forma de agua caliente y refrigeración. Esto permite seleccionar las unidades en funcionamiento y la distribución de carga entre las diversas unidades. Los resultados se utilizaran para proponer nuevas estrategias de operación de acuerdo con el patrón de cada demanda, calcular la viabilidad de estas y detectar las posibles fuentes de desviación con respecto al rendimiento esperado en cada unidad.Los autores agradecen el soporte económico facilitado por el Ministerio de Economía y Competitividad de España a través del proyecto coordinado de I+D+i, ref. PI2012-38841-C02-01

Development and Application of a High Resolution Melt (HRM) based test for the Rapid Screening of Leishmania infantum Genotypes

INTRODUCTION Leishmaniasis includes anthropo zoonotic infectious diseases caused by a protozoan of the Leishmania genus, associated with different clinical manifestations, affecting both humans and other vertebrates, including dogs The Mediterranean basin, including Italy, is considered an endemic area for both visceral and cutaneous leishmaniasis caused by L infantum The multi locus enzyme electrophoresis ( based on the electrophoretic mobility of several enzymes from promastigotes cultures, is considered the reference method for parasite typing Through this method, about 45 L infantum zymodemes (also termed MON) have been identified in humans in the Mediterranean basin 1 Among these, L infantum MON 1 is the most widespread, representing about 70 of all identified strains In Italy, canine infections showed a high prevalence of MON 1 91 with the remaining composed almost exclusively of MON 72 2 Since MLEE technique is cumbersome, time consuming and requires parasites isolation, several biomolecular approaches have been developed In particular, we identified the SNP 390 T>G in malic enzyme ( gene as a potential marker to differentiate the most common L infantum genotype, i e 390 T (corresponding to zymodemes MON 1 72 201 from all others. AIMS This study aimed to develop a Rapid Genotype Screening ( assay for L infantum genetic characterization in clinical samples using high resolution melt ( analysis, exploiting the polymorphism 390 T>G in the ME gene

The geometrical nature of optical resonances : from a sphere to fused dimer nanoparticles

We study the electromagnetic response of smooth gold nanoparticles with shapes varying from a single sphere to two ellipsoids joined smoothly at their vertices. We show that the plasmonic resonance visible in the extinction and absorption cross sections shifts to longer wavelengths and eventually disappears as the mid-plane waist of the composite particle becomes narrower. This process corresponds to an increase of the numbers of internal and scattering modes that are mainly confined to the surface and coupled to the incident field. These modes strongly affect the near field, and therefore are of great importance in surface spectroscopy, but are almost undetectable in the far field