OBJECTIVE Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS Twenty-five patie...

In this study concentration and composition of non-esterified fatty acids (NEFA) in follicular fluid (FF) of high-yielding dairy cows were determined during the period of negative energy balance (NEB) early post partum. NEFA were then added during in vitro maturation at concentrations measured previously in FF to evaluate their effect on the oocyte's developmental competence. At 16 and 44 days ...

This study discusses the case of a 200 m2 container garden set up in polluted and neglected area School Management Economics University Turin. ‘L’Orto della SME’ is self-managed, it has become hub for variety stakeholders, within outside university. The project part framework Proposal Citizen Engagement, promoted by EIT Food Cross-KIC, which contributes to New European Bauhaus (NEB). paper look...

Nebulin is a giant filamentous protein that is coextensive with the actin filaments of the skeletal muscle sarcomere. Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients having low expression of nebulin, yet the roles of nebulin in adult muscle remain poorly understood. To establish nebulin's functional roles in adult muscle, we studied a novel condition...

During the transition period, the lipid metabolism of dairy cows is markedly affected by energy status. Fatty liver is one of the main health disorders after parturition. The aim of this study was to evaluate the effects of a negative energy balance (NEB) at 2 stages in lactation [NEB at the onset of lactation postpartum (p.p.) and a deliberately induced NEB by feed restriction near 100 d in mi...

INTRODUCTION Design differences among pneumatically powered, small-volume nebulizers affect drug disposition (percentage of the dose delivered to the patient, lost to deposition in the equipment, and lost via exhalation to ambient air) and thus affect drug availability and efficacy. OBJECTIVE Evaluate in vitro the dose disposition with 5 nebulizer models, of 3 types (constant-output, breath-e...

This paper examines the relative role of Indian Ocean basin-wide (IOBW) mode and El Niño–Southern Oscillation (ENSO) in atmospheric circulation rainfall interannual variations over South America (SA) during southern summer 1951?2016 period. The effects warm IOBW Niño (EN) events, cold La Niña (LN) events are examined using partial correlations. ENSO modes, through associated large-scale regiona...

LDN1415-IRS, a low-mass young stellar object (YSO) went into an outburst between 2001 and 2006, illuminating surrounding nebula, LDN1415-Neb. LDN1415-Neb was found to have brightened by I=3.77 mag April 2006. The optical light curve covering $\sim$ 15.5 years, starting from October 2006 January 2022, is presented in this study. initial spectrum indicated the presence of winds system but subsequ...

InBase, the Intein Database (http://www.neb.com/neb/inteins.html ), is a comprehensive on-line resource that includes the Intein Registry. Inteins are protein splicing elements that mediate a self-catalytic protein splicing reaction. InBase presents general information as well as detailed data for each intein, including tabu-lated comparisons and a comprehensive bibliography.