Identifying rare genetic variants that drive the onset of disease is challenging, even before considering the additional genetic and environmental influences that likely exist in complex diseases. We recently published a study proposing a rare variant in the NR1H3 gene (p.R415Q, rs61731956) as responsible for the onset of multiple sclerosis (MS) in two multi-incident families (Wang et al., 2016...

spinal muscular atrophies (smas) are one of the more common autosomal recessive and single gene disorders. they are heterogeneous disorders, both in phenotypic and genotypic aspects. prevalence of these disorders are about 1 of every 6000 to 25000 live born babies in different ethnicities. in some chinese population prevalence of disease reported to be 1 in 50000. if it was true, carrier freque...

abstract introduction: interferential current is one of the most popular kinds of electrical stimulation that are used in electrotherapy. despite its clinical popularity, there have been limited studies to investigate how this stimulation protocol affects the nerve fibers. this study was aimed to develop a realistic model for the stimulation of nerve fibers by interferential currents and using ...

A multi-stakeholder symposium at the third annual Canadian Therapeutics Congress (May 2006) discussed the nature of pragmatic studies, and helped to further define their role in the drug regulatory system, formulary access decisions and in clinical practice. The symposium panel appeared to have agreed that pragmatic studies were beneficial, but revealed differences in how, when and where they s...