SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2, and SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants have not been associated with any human disorder. This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, and c.8809A>T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5-associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5

A review on exploring the behavior of multi-layer composite structures under dynamic loading

This paper reviews the recent research progress on multi-layer composite structures composed of variety of materials. The utilization of multi-layer composite system is found to be common in metal structures and pavement systems. The layer of composite structure designed to encounter heavy dynamic energy should have sufficient ductility to counteract the intensity of energy. Therefore, the selection of materials and enhancement of interface bonding become crucial and both are discussed in this paper. The failure modes have also been explored in conjunction with stresses at failures and inferred solutions are also revealed. The paper attempts to reveal all technical facts on multi-layer composite structure in a broad field

A New Modified Technique of Adomian Decomposition Method for Fractional Diffusion Equations with Initial-Boundary Conditions

In general, solving fractional partial differential equations either numerically or analytically is a difficult task. However, mathematicians have tried their best to make the task easy and promoted various techniques for their solutions. In this regard, a very prominent and accurate technique, which is known as the new technique of the Adomian decomposition method, is developed and presented for the solution of the initial-boundary value problem of the diffusion equation with fractional view analysis. The suggested model is an important mathematical model to study the behavior of degrees of memory in diffusing materials. Some important results for the given model at different fractional orders of the derivatives are achieved. Graphs show the obtained results to confirm the accuracy and validity of the suggested technique. These results are in good contact with the physical dynamics of the targeted problems. The obtained results for both fractional and integer orders problems are explained through graphs and tables. Tables and graphs support the physical behavior of each problem and the best of physical analysis. From the results, it is concluded that as the fractional order derivative is changed, the graphs or paths of dynamics are also changed. Therefore, we now choose the best solution or dynamic of the problem at a particular derivative order. It is analyzed that the present technique is one of the best techniques to handle the solutions of fractional partial differential equations having initial and boundary conditions (BCs), which are very rare in literature. Furthermore, a small number of calculations are done to achieve a very high rate of convergence, which is the novelty of the present research work. The proposed method provides the series solution with twice recursive formulae to increase the desired accuracy and is preferred among the best techniques to find the solution of fractional partial differential equations with mixed initials and BCs

The global burden of cancer attributable to risk factors, 2010-19: a systematic analysis for the Global Burden of Disease Study 2019

Background Understanding the magnitude of cancer burden attributable to potentially modifiable risk factors is crucial for development of effective prevention and mitigation strategies. We analysed results from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 to inform cancer control planning efforts globally. Methods The GBD 2019 comparative risk assessment framework was used to estimate cancer burden attributable to behavioural, environmental and occupational, and metabolic risk factors. A total of 82 risk-outcome pairs were included on the basis of the World Cancer Research Fund criteria. Estimated cancer deaths and disability-adjusted life-years (DALYs) in 2019 and change in these measures between 2010 and 2019 are presented. Findings Globally, in 2019, the risk factors included in this analysis accounted for 4.45 million (95% uncertainty interval 4.01-4.94) deaths and 105 million (95.0-116) DALYs for both sexes combined, representing 44.4% (41.3-48.4) of all cancer deaths and 42.0% (39.1-45.6) of all DALYs. There were 2.88 million (2.60-3.18) risk-attributable cancer deaths in males (50.6% 47.8-54.1] of all male cancer deaths) and 1.58 million (1.36-1.84) risk-attributable cancer deaths in females (36.3% 32.5-41.3] of all female cancer deaths). The leading risk factors at the most detailed level globally for risk-attributable cancer deaths and DALYs in 2019 for both sexes combined were smoking, followed by alcohol use and high BMI. Risk-attributable cancer burden varied by world region and Socio-demographic Index (SDI), with smoking, unsafe sex, and alcohol use being the three leading risk factors for risk-attributable cancer DALYs in low SDI locations in 2019, whereas DALYs in high SDI locations mirrored the top three global risk factor rankings. From 2010 to 2019, global risk-attributable cancer deaths increased by 20.4% (12.6-28.4) and DALYs by 16.8% (8.8-25.0), with the greatest percentage increase in metabolic risks (34.7% 27.9-42.8] and 33.3% 25.8-42.0]). Interpretation The leading risk factors contributing to global cancer burden in 2019 were behavioural, whereas metabolic risk factors saw the largest increases between 2010 and 2019. Reducing exposure to these modifiable risk factors would decrease cancer mortality and DALY rates worldwide, and policies should be tailored appropriately to local cancer risk factor burden. Copyright (C) 2022 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license