Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons. We identified patients with heterozygous nonsense mutations in the alpha II-spectrin gene, SPTAN1, in three separate dominant hereditary motor neuropathy families via next-generation sequencing. Variable penetrance was noted for these mutations in two of three families, and phenotype severity differs greatly between patients. The mutant mRNA containing nonsense mutations is broken down by nonsense-mediated decay and leads to reduced protein levels in patient cells. Previously, dominant-negative alpha II-spectrin gene mutations were described as causal in a spectrum of epilepsy phenotypes

Shifted loops and coercivity from field imprinted high energy barriers in ferritin and ferrihydrite nanoparticles

We show that the coercive field in ferritin and ferrihydrite depends on the maximum magnetic field in a hysteresis loop and that coercivity and loop shifts depend both on the maximum and cooling fields. In the case of ferritin we show that the time dependence of the magnetization also depends on the maximum and previous cooling fields. This behavior is associated to changes in the intra-particle energy barriers imprinted by these fields. Accordingly, the dependence of the coercive and loop shift fields with the maximum field in ferritin and ferrihydrite can be described within the frame of a uniform-rotation model considering a dependence of the energy barrier with the maximum and the cooling fields.Comment: 8 pages, 5 figures. Accepted for publication in Phys. Rev. B. Final version with improved writing and figure

Origin of slow magnetic relaxation in Kramers ions with non-uniaxial anisotropy

Transition metal ions with long-lived spin states represent minimum size magnetic bits. Magnetic memory has often been associated with the combination of high spin and strong uniaxial magnetic anisotropy. Yet, slow magnetic relaxation has also been observed in some Kramers ions with dominant easy-plane magnetic anisotropy, albeit only under an external magnetic field. Here we study the spin dynamics of cobalt(II) ions in a model molecular complex. We show, by means of quantitative first-principles calculations, that the slow relaxation in this and other similar systems is a general consequence of time-reversal symmetry that hinders direct spin–phonon processes regardless of the sign of the magnetic anisotropy. Its magnetic field dependence is a subtle manifestation of electronuclear spin entanglement, which opens relaxation channels that would otherwise be forbidden but, at the same time, masks the relaxation phenomenon at zero field. These results provide a promising strategy to synthesize atom-size magnetic memories

A NOVEL INDEX OF ABUNDANCE OF JUVENILE YELLOWFIN TUNA IN THE ATLANTIC OCEAN DERIVED FROM ECHOSOUNDER BUOYS

The collaboration with the Spanish vessel-owners associations and the buoy-providers companies, has made it possible the recovery of the information recorded by the satellite linked GPS tracking echosounder buoys used by the Spanish tropical tuna purse seiners and associated fleet in the Atlantic since 2010. These instrumental buoys inform fishers remotely in real-time about the accurate geolocation of the FAD and the presence and abundance of fish aggregations underneath them. Apart from its unquestionable impact in the conception of a reliable CPUE index from the tropical purse seine tuna fisheries fishing on FADs, echosounder buoys have also the potential of being a privileged observation platform to evaluate abundances of tunas and accompanying species using catch-independent data. Current echosounder buoys provide a single acoustic value without discriminating species or size composition of the fish underneath the FAD. Therefore, it has been necessary to combine the echosounder buoys data with fishery data, species composition and average size, to obtain a specific indicator. This paper presents a novel index of abundance of juvenile yellowfin tuna in the Atlantic Ocean derived from echosounder buoys for the period 2010-2018

Genetic connectivity and hybridization with its siter species challenge the current management paradigm of white anglerfish (Lophius piscatorius)

Understanding the inter and intraspecific dynamics of fish populations is essential to promote effective management and conservation actions and to predict adaptation to changing conditions. This is possible through the analysis of thousands of genetic markers, which has proven useful to resolve connectivity among populations. Here, we have tackled this issue in the white anglerfish (Lophius piscatorius), which inhabits the Northeast Atlantic and Mediterranean Sea and coexists with its morphologically almost identical sister species, the black anglerfish (L. budegassa). Our genetic analyses based on 16,000 SNP markers and 700 samples reveal that i) the white anglerfish from the Mediterranean Sea and the Atlantic Ocean are genetically isolated, but that no differentiation can be observed within the later, and that ii) black and white anglerfish naturally hybridize, resulting in a population of about 20% of, most likely sterile, hybrids in some areas. These findings challenge the current paradigm of white anglerfish management, which considers three independent management units within the North East Atlantic and assumes that all mature fish have reproductive potential. Additionally, the northwards distribution of both species, likely due to temperature raises, calls for further monitoring of the abundance and distribution of hybrids to anticipate the effects of climate change in the interactions between both species and their potential resilience

Promoting the use of Motor Function Measure (MFM) as outcome measure in patients with Duchenne Muscular Dystrophy (DMD) treated by corticosteroids

ObjectivesAssessing muscle function is a key step in measuring changes and evaluating the outcomes of therapeutic interventions in Duchenne Muscular Dystrophy (DMD). Regarding the large use of corticosteroids (CS) in this population to delay the loss of function, our goal was to monitor the evolution of motor function in patients with DMD treated by corticosteroids (CS) and to study the responsiveness of Motor Function Measure (MFM) in this population in order to provide an estimation of the number of subject needed for a clinical trial.MethodA total of 76 patients with DMD, aged 5.9 to 11.8 years, with at least 6 months of follow-up and 2 MFM were enrolled, 30 in the CS treated group (8±1.62 y) and 46 in the untreated group (7.91±1.50 y).ResultsThe relationship between MFM scores and age was studied in CS treated patients and untreated patients. The evolution of these scores was compared between groups, on a 6-, 12- and 24-month period by calculating slopes of change and standardized response mean. At 6, 12 and 24 months, significant differences in the mean score change were found, for all MFM scores, between CS treated patients and untreated patients. For D1 subscore specifically, at 6 months, the increase is significant in the treated group (11.3±14%/y; SRM 0.8) while a decrease is observed in the untreated group (–17.8±17.7%/y; SRM 1). At 12 and 24 months, D1 subscore stabilized for treated patients but declined significantly for untreated boys (–15.5±15.1%/y; SRM 1 at 12 mo and–18.8±7.1%/y; SRM 2.6 at 24 mo). 21 patients lost the ability to walk during the study: 6 in the CS treated group (25% at 24 months, mean age: 10.74±1.28 y) and 15 in the untreated group (64.71% at 24 months, mean age: 9.20±1.78 y).Discussion and conclusionPatients with DMD treated by CS present a different course of the disease described in this paper using the MFM. Based on these results, an estimation of the number of patients needed for clinical trial could be done

Measures for verification of contractors by means of information and analytical systems based on existing methods

The article presents the main measures to determine the reliability of contractors based on existing methods of the Federal tax service and the use of information and analytical systems