Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
ORPHANET JOURNAL OF RARE DISEASES
Authors: Scalco, Renata S.; Lucia, Alejandro; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Toscano, Antonio; Musumeci, Olimpia; Voermans, Nicol C.; Kouwenberg, Carlyn V.; Laforet, Pascal; San-Millan, Beatriz; Vieitez, Irene; Siciliano, Gabriele; Kuhnle, Enrico; Trost, Rebeca; Sacconi, Sabrina; Stemmerik, Mads G.; Durmus, Hacer; Kierdaszuk, Biruta; Wakelin, Andrew; Andreu, Antoni L.; Pinos, Tomas; Marti, Ramon; Quinlivan, Ros; Vissing, John
Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.
Comparative assessment of sodium selenite, selenised yeast and nanosized elemental selenium on performance response, immunity and antioxidative function of broiler chickens
ITALIAN JOURNAL OF ANIMAL SCIENCE
Authors: Pardechi, Amirarsalan; Tabeidian, Sayed Ali; Habibian, Mahmood
Although selenium (Se) supplementation is a common practice in poultry, the best source and level has not been established yet. Thus, a 42-day experiment involving diets with three levels (0.1, 0.2 and 0.5 mg/kg) of supplemental Se from sodium selenite (SS), selenised yeast (SY) and nanoelemental Se (SN) was conducted to evaluate the possible differential responses of broiler chickens to inorganic, organic and nano Se sources relative to a control diet. Throughout the experiment, broilers receiving Se supplements had higher feed intake, body weight gain (BWG) and survival rate than the control. Broilers fed dietary SY or SN had improved BWG compared with those fed the SS-supplemented diets. Broilers treated with Se supplementation had increased serum glutathione peroxidase (GPx) and thioredoxin reductase (TrxR) activities and produced higher antibody responses to avian influenza virus (AIV) and sheep red blood cell (SRBC) versus the control. These effects were enhanced with increasing Se addition, except for GPx that responded equally to all supplemental Se levels. Also, broilers receiving supplementary SY or SN exhibited higher anti-AIV and anti-SRBC titres along with more elevated serum Se, TrxR activity and total antioxidant capacity compared with those receiving SS. At the same time, SN had the most increasing effect on anti-SRBC titre. To conclude, diet supplementation with 0.5 mg/kg of Se in the form of SY or SN was capable of meeting the Se demands of broiler chickens for optimum growth and antioxidant capability, while SN seemed to be the most effective Se source in enhancing immunity.