Search

This article investigates the linear and non-linear dependence structures of risk contagions between global crude oil futures markets and China’s agricultural futures markets based on a regime swit...

Background Emery-Dreifuss muscular dystrophy, caused by mutations in genes such as emerin (EMD) or lamin A/C (LMNA), is a disorder affecting the joints, muscles, and heart, with a wide spectrum of patient phenotypes including muscle wasting and cardiac conduction defects. Methods and results Here we report a multi-generation family from the Hunan Province of China. Affected family members displayed an uncommon clinical presentation of serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death along with mild skeletal muscular atrophy and joint contracture. Clinical analysis of affected members provided evidence of X-linked recessive inheritance. Consequently, using Sanger sequencing of X chromosome exomes, we identified a novel duplication mutation (c.405dup/p.Asp136X) in the EMD gene as the cause for the disease in this family. This variant is a novel mutation that has not been previously reported in Pubmed, Clinvar or other cases reported in the Human Gene Mutation Database. Conclusion Our finding expands the mutation spectrum of Emery-Dreifuss muscular dystrophy and provides a rationale for EMD mutation testing in cases of X-linked inherited cardiac conduction disease and sudden cardiac death, even in those lacking pathognomonic neuromuscular features.

We develop a Multivariate Heterogeneous Autoregressive (MHAR) model with time-varying sparsity (TVS), or the TVS-MHAR-X model, to model and forecast the realized covariance matrices by empl...

This article identifies the breakdowns in the covariance of three benchmark crude oil futures markets (WTI, Brent and Dubai) and investigates the changes of market connectedness across the breakdow...