Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis-microcolon intestinal hypoperistalsis syndrome and chronic intestinal pseudo-obstruction. The vast majority of cases are caused by dominant variants in ACTG2; however, the overall genetic architecture of visceral myopathy has not been well-characterized. We ascertained 53 families, with visceral myopathy based on megacystis, functional bladder/gastrointestinal obstruction, or microcolon.

[Therapy-resistant periprosthetic abscess of the hip of unknown cause].

Two months after total endoprosthesis of the hip (Spotorno) a 60-year-old obese female patient complained about increasing hip pain. Costly diagnostic measures could not clarify the cause. Analgesic therapy administered with local cortisone injections was not satisfactory.