A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

We describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic missense variants in ACTA1 leading to the same amino acid change, p.(Gly247Arg).

Clinical profile of re-hospitalizations in pediatric kidney and liver transplant recipients.

Background: Solid organ transplantation has evolved in recent decades, resulting in a rise in patient and graft survival. Frequent hospitalizations affect graft function, patients' health, and quality of life. This study characterizes the frequency and causes of post-transplant hospitalizations among pediatric recipients.

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.

Herein, we describe two members of one family who presented with recurrent episodes of hepatic failure, cerebellar ataxia, peripheral neuropathy, and short stature. Liver transplantation was considered. Whole-exome sequencing (Trio) revealed a synonymous variant in exon 4 of SCYL1:c.

Camouflaging moving objects: crypsis and masquerade.

Motion is generally assumed to "break" camouflage. However, although camouflage cannot conceal a group of moving animals, it may impair a predator's ability to single one out for attack, even if that discrimination is not based on a color difference. Here, we use a computer-based task in which humans had to detect the odd one out among moving objects, with "oddity" based on shape.

Effect of medical cannabis on thermal quantitative measurements of pain in patients with Parkinson's disease.

Background: Cannabis can alleviate pain of various etiologies. This study assessed the effect of cannabis on motor symptoms and pain parameters in patients with Parkinson's disease (PD).

Methods: Twenty patients with PD who were licensed to use cannabis underwent evaluation before and 30 min after cannabis consumption and again after long-term use.