EPS8L2, encoding EPS8 signaling adaptor L2 protein, is critical for stereocilia maintenance in cochlear hair cells. Four previously published families have replicated autosomal recessive non-syndromic hearing loss (DFNB106), yet the mutational and clinical spectrum remains poorly described. This study expands the mutational and clinical spectrum of EPS8L2-associated hearing impairment by identifying five additional individuals in four families, more than doubling the number of reported cases to...

CONCLUSION: These results may indicate the safety of MBS in patients with compensated cirrhosis and obesity.

After a severe spinal cord injury (SCI), the human spinal circuitry receiving epidural stimulation can generate lower limb postural responses to sensory inputs associated with trunk perturbation. Here, we assessed the effects of different trunk perturbative forces on standing postural responses in six individuals with chronic, motor complete SCI receiving epidural stimulation to facilitate standing. The robotic upright stand trainer (RobUST) provided constant assistance for pelvic control and...

Chondroitin sulfate proteoglycan 4 (CSPG4) is a major receptor for Clostridioides difficile TcdB, but the dynamics and regulation of CSPG4 expression during C. difficile disease has not been described. Using a combination of experimental approaches we discovered that TcdB induces CSPG4 expression through a mechanism involving small GTPase inactivation and modulation of kinases in the Hippo-signaling cascade. Treatment of HeLa cells or human pericytes with TcdB increased CSPG4 expression and this...

CONCLUSIONS: In patients with heavily pretreated GCT, nirogacestat treatment resulted in durable disease stabilisation of at least 7 weeks for 58% of patients, with 21% achieving PFS6, including the 3 patients whose tumours had an activating NOTCH1 mutation.