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Abstract Objective ANO5‐related myopathy is an important cause of limb‐girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients. Methods A national cross‐sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied. Results Thirty‐seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss‐of‐function variants were not associated with specific phenotypes. Interpretation We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype.

Predictive power in theoretical nuclear physics has been a major concern in the study of nuclear structure and reactions. The Effective Field Theory (EFT) based on chiral expansions provides a model independent hierarchy for many body forces at long distances but their predictive power may be undermined by the regularization scheme dependence induced by the counterterms and encoding the short distances dynamics which seem to dominate the uncertainties. We analyze several examples including zero energy NN scattering or perturbative counterterm-free peripheral scattering where one would expect these methods to work best and unveil relevant systematic discrepancies when a fair comparison to the Granada-2013 NN-database and partial wave analysis (PWA) is undertaken.

We review our work on the statistical uncertainty analysis of the NN force. This is based on the Granada-2013 database where a statistically meaningful partial wave analysis comprising a total of 6713 np and pp published scattering data from 1950 till 2013 below pion production threshold has been made. We stress the necessary conditions required for a correct and self-consistent statistical interpretation of the discrepancies between theory and experiment which enable a subsequent statistical error propagation and correlation analysis

In this study, we investigated the effect of transcranial magnetic stimulation (TMS) on the ultrastructure of muscle fibers and satellite cells in rats with experimental autoimmune encephalomyelitis (EAE). EAE-induced animals were treated with TMS (60 Hz at 0.7 mT) for 2 hours in the morning, once a day, 5 days a week, for 3 weeks, starting on day 15 post-immunization. The rats were sacrificed on day 36 post-immunization, and the soleus muscles were evaluated by light microscopy and transmission electron microscopy. Findings were compared with a non-treated EAE group. Electron microscopy analysis showed the presence of degenerated mitochondria, autophagic vacuoles, and altered myofibrils in non-treated EAE group. This correlates with the presence of acid phosphatase activity in muscle fibers and core-targetoid lesions with desmin immunohistochemistry. Most myonuclei in the EAE group showed apoptotic features. In contrast, EAE induced-TMS treated animals had less ultrastructural changes in the mitochondria and the myofibrils, together with less frequent apoptotic nuclear features. Peripheral desmin+ protrusions, as a marker of active satellite cells, were significantly increased in TMS-treated group. This correlates ultrastructurally with the presence of active features in satellite cells in the TMS group. In conclusion, the attenuation of ultrastructural alterations in muscle fibers and activation response of satellite cells caused by EAE indicated that skeletal muscle had a regenerative response to TMS. [ABSTRACT FROM AUTHOR]

A geometric view of the possible outcomes of elastic collisions of two massive bodies is developed that integrates laboratory, center of mass, and relative body frames in a single diagram. From these diagrams all the scattering properties of binary collisions can be obtained. The particular case of gravitational scattering by a moving massive object corresponds to the slingshot maneuver, and its maximum velocity is obtained. [DOI: 10.1119/1.2188961]

We illustrate the connection between electron and neutrino scattering off nuclei and show how the former process can be used to constrain the description of the latter. After reviewing some of the nuclear models commonly used to study lepton-nucleus reactions, we describe in detail the SuSAv2 model and show how its predictions compare with the available electron- and neutrino-scattering data over the kinematical range going from the quasi-elastic peak to pion-production and highly inelastic scattering. [ABSTRACT FROM AUTHOR]

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We present the results of a recent study [1] of meson-exchange two-body currents in lepton-nucleus inclusive scattering at various kinematics and for different nuclei within the Relativistic Fermi Gas model. We show that the associated nuclear response functions at their peaks scale as Ak²F, for Fermi momentum kF going from 200 to 300 MeV/c and momentum transfer q from 2kF to 2 GeV/c. This behavior is different from what is found for the quasielastic response, which scales as A/kF . This result can be valuable in the analyses of long-baseline neutrino oscillation experiments, which need to implement these nuclear effects in Monte Carlo simulations for different kinematics and nuclear targets. [ABSTRACT FROM AUTHOR]

There exist four pion nucleon coupling constants, , , and which coincide when up and down quark masses are identical and the electron charge is zero. While there is no reason why the pion-nucleon-nucleon coupling constants should be identical in the real world, one expects that the small differences might be pinned down from a sufficiently large number of independent and mutually consistent data. Our discussion provides a rationale for our recent determination based on a partial wave analysis of the self-consistent nucleon-nucleon Granada-2013 database comprising 6713 published data in the period 1950-2013. [ABSTRACT FROM AUTHOR]

We give a brief review on the development of phenomenological NN interactions and the corresponding quantification of statistical uncertainties. We look into the uncertainty of effective interactions broadly used in mean field calculations through the Skyrme parameters and effective field theory counterterms by estimating both statistical and systematic uncertainties stemming from the NN interaction. We also comment on the role played by different fitting strategies on the light of recent developments. [ABSTRACT FROM AUTHOR]

BackgroundIn Brazil and other low- and middle-income countries, excess interventions in childbirth are associated with an increase in preterm and early-term births, contributing to stagnant morbidity and mortality of mothers and neonates. The fact that women often report a negative experience with vaginal childbirth, with physical pain and feelings of unsafety, neglect, or abuse, may explain the high acceptability of elective cesarean sections. The recognition of information needs and of the right to informed choice during childbirth can help change this reality. The internet has been the main source of health information, but its quality is highly variable. ObjectiveThis study aimed to develop and evaluate an information and communication strategy through a smartphone app with respect to childbirth, to facilitate informed choices for access to safer and evidence-based care in the context of the COVID-19 pandemic. MethodsA randomized controlled trial, with 2 arms (intervention and control) and a closed, blind, parallel design, will be conducted with a smartphone app designed for behavior and opinion research in Brazil, with women of reproductive age previously registered on the app. After completing an entry questionnaire to verify the eligibility criteria and obtaining ethical consent, approximately 20,000 participants will be randomly allocated to the intervention and control groups at a 1:1 ratio. Participants allocated to the intervention group will be invited to engage in a digital information and communication strategy, which is designed to expand evidence-based knowledge on the advantages and disadvantages of options for labor and childbirth and the safety of the care processes. The information is based on the guidelines of the Ministry of Health and the World Health Organization for a positive childbirth experience and has been updated to include the new challenges and disruptions in maternity care within the context of the COVID-19 pandemic. The control group will receive information regarding disposable and reusable diapers as a placebo intervention. The groups will be compared in their responses in generating the birth plan and the entry and exit questionnaires, regarding responses less or more aligned with the guidelines for a positive childbirth experience. A qualitative component to map information needs is included. ResultsThe digital trial started recruiting participants in late October 2020, and data collection has been projected to be complete by December 2020. ConclusionsThis study will evaluate an innovative intervention that has the potential to promote better communication between women and providers, such that they can make better choices using an approach suitable for use during the COVID-19 pandemic. Trial RegistrationThe Brazilian Clinical Trials Registry U1111-1255-8683; http://www.ensaiosclinicos.gov.br/rg/RBR-3g5f9f/ International Registered Report Identifier (IRRID)PRR1-10.2196/25016

We propagate the statistical uncertainty of experimental N N scattering data into the binding energy of ³H and 4He. We also study the sensitivity of the magnetic moment and proton radius of the ³H to changes in the NN interaction. The calculations are made with the no-core full configuration method in a sufficiently large harmonic oscillator basis. Forthose light nuclei we obtain ΔEstat(³H) = 0.015 MeV and ΔEstat(4He) = 0.055 MeV. [ABSTRACT FROM AUTHOR]

The experimental data from quasielastic electron scattering from 12C are reanalyzed in terms of a new scaling variable suggested by the interacting relativistic Fermi gas with scalar and vector interactions, which is known to generate a relativistic effective mass for the interacting nucleons. By choosing a mean value of this relativistic effective mass ..., we observe that most of the data fall inside a region around the inverse parabola-shaped universal scaling function of the relativistic Fermi gas. This suggests a method to select the subset of data that highlight the quasielastic region, about two thirds of the total 2,500 data. Regardless of the momentum and energy transfer, this method automatically excludes the data that are not dominated by the quasielastic process. The resulting band of data reflects deviations from the perfect universality, and can be used to characterize experimentally the quasielastic peak, despite the manifest scaling violation. Moreover we show that the spread of the data around the scaling function can be interpreted as genuine fluctuations of the effective mass ... . Applying the same procedure we transport the scaling quasielastic band into a theoretical prediction band for neutrino scattering cross section that is compatible with the recent measurements and slightly more accurate. [ABSTRACT FROM AUTHOR]