Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

The CSF1R gene, located on chromosome 5, encodes a 108 kDa protein and plays a critical role in regulating myeloid cell function. Mutations in CSF1R have been identified as a cause of a rare white matter disease called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP, also known as CSF1R-related leukoencephalopathy), characterized by progressive neurological dysfunction. This study aimed to broaden the genetic basis of ALSP by identifying novel CSF1R variants in patients with characteristic clinical and imaging features of ALSP.

Highly impacted bone allograft may allow immediate weight bearing in tibial plateau fractures: A case report.

Introduction: Proximal tibial fractures are common with an incidence of 10.2/100.000.

Knee pain and associated complications after intramedullary nailing of tibial shaft fracture.

Introduction: The treatment of choice for unstable diaphyseal fractures in the tibia is reamed insertion of an intramedullary nail (IMN). The most common complication to this treatment is chronic knee pain with reported rates ranging from 10% to 87% with a mean of 47.4% in meta-analyses.