Vikki Stefans

5 Questions 21 Answers 0 Followers

Questions related from Vikki Stefans

What is the best in-silico prediction tool to help determine pathogenicity of an intronic mutation?

We have a patient with clinical picture compatible with FKRP-related LGMD2i (aka LGMDr9). Has one known pathogenic mutation and also IVS1+4a>g c.-253+4a. Would like to assess this to better...

24 October 2018 304 3 View

What can you tell to a patient who is worried about cognitive aftereffects of general anesthesia?

There is family history of somewhat older relative having cognitive decline that dramatically accelerated after general anesthetic given for joint replacement, but a more minor and brief procedure...

27 December 2013 3,839 2 View

There are extensive GWAS and genomic studies on myopathic side effects of statins. Is anyone aware of similar studies on cognitive side effects?

This was controversial at one time, but it happened to me and possibly to my parents, and the FDA has validated cognitive dysfunction as a known side effect. It is clearly less common than the...

29 August 2013 8,397 0 View

What do you suggest for autophagic vacuolar myopathy (AVM) plus intellectual disability, more proximal than distal weakness?

I've got a couple of latina girls with autophagic vacuolar myopathy (AVM) plus intellectual disability, more proximal than distal weakness. Pompe's test negative, cardiologic OK. Lactate and...

31 January 2013 6,148 2 View

Could dantrolene enhance exon skipping and increase revertant fibers in severe dystrophinopathy with quite a few spontaneous revertant fibers already?

Duchenne muscular dystrophy

16 January 2013 881 2 View