Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2 knockout mouse model.

The main aim of this research paper is to introduce a new extension of the Gauss hypergeometric function and confluent hypergeometric function by using an extended beta function. Some functional relations, summation relations, integral representations, linear transformation formulas, and derivative formulas for these extended functions are derived. We also introduce the logarithmic convexity and some important inequalities for extended beta function.

We present some solutions of the three-dimensional Laplace equation in terms of linear combinations of generalized hyperogeometric functions in prolate elliptic geometry, which simulates the current tokamak shapes. Such solutions are valid for particular parameter values. The derived solutions are compared with the solutions obtained in the standard toroidal geometry.

A new model that describes the life cycle of mosquitoes of the species Aedes aegypti, main carriers of vector-borne diseases, is proposed. The novelty is to include in the model the coexistence of two independent diffusion processes, one fast which obeys the constitutive Fick’s law, the other slow which satisfies the Cattaneo evolution equation. The analysis of the corresponding ODE model shows the overall stability of the Mosquitoes-Free Equilibrium (MFE), together with the local stability of the other equilibrium point admitted by the system. Traveling wave type solutions have been investigated, providing an estimate of the minimal speed for which there are monotone waves that connect the homogeneous equilibria allowed by the system. A special section is dedicated to the analysis of the hyperbolic model obtained neglecting the fast diffusive contribution. This particular case is suitable to describe the biological process as it overcomes the paradox of infinite speed propagation, typical of parabolic systems. Several numerical simulations compare the existing models in the literature with those presented in this discussion, showing that although the generalized model is parabolic, the associated wave velocity admits upper bound represented by the speed of the waves linked to the classic parabolic model present in the published literature, so the presence of a slow flux together with a fast one slows down the speed with which a population spreads.

This study presents a new model for the environment-host-environment transmission dynamics of V. cholerae in a community with an interconnected aquatic pond–river water network. For the case when the human host is the sole target of anti-cholera control and the volume of water in the pond is maximum, the disease-free equilibrium of the model is shown to be globally asymptotically stable whenever a certain epidemiological threshold, known as the basic reproduction number [Formula: see text], is less than unity. The epidemiological implication of this result is that cholera can be eliminated from the community if the control strategies implemented can bring (and maintain) [Formula: see text] to a value less than unity. Four scenarios, that represent different interpretations of the role of the V. cholerea pathogen within the environment, were studied. The corresponding basic reproduction numbers were shown to exhibit the same threshold property with respect to the value unity (i.e., if one is less (equal, greater) than unity, then the three others are also less (equal, greater) than unity. Further, it was shown that for the case where anti-cholera control is focused on the human host population, the associated type reproduction number of the model (corresponding to each of the four transmission scenarios considered) is unique. The implication of this result is that the estimate of the effort needed for disease elimination (i.e., the required herd immunity threshold) is unique, regardless of which of the four transmission scenarios is considered. However, when any of the other two bacterial population types in the aquatic environment (i.e., bacterial in the pond or river) is the focus of the control efforts, this study shows that the associated type reproduction number is not unique. Extensive numerical simulations of the model, using a realistic set of parameters from the published literature, show that the community-wide implementation of a strategy that focus on improved water quality, sanitation, and hygiene (known as WASH-only strategy), using the current estimated coverage of 50% and efficacy of 60%, is unable to lead to the elimination of the disease. Such elimination is attainable if the coverage and efficacy are increased (e.g., to 80% and 90%, respectively). Further, elimination can be achieved using a strategy that focuses on oral rehydration therapy and the use of antibiotics to treat the infected humans (i.e., treatment-only strategy) for moderate effectiveness and coverage levels. The combined hybrid WASH-treatment strategy provides far better population-level impact vis a vis disease elimination. This study ranks the three interventions in the following order of population-level effectiveness: combined WASH-treatment, followed by treatment-only and then WASH-only strategy.