C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.

Enhanced copper extraction from waste printed circuit boards using glycine after supercritical methanol pre-treatment: Process optimization, leaching kinetics, and thermodynamic analysis.

The disposal of waste-printed circuit boards (WPCBs) poses significant environmental and health risks, as they are a major component of e-waste containing hazardous materials. However, WPCBs also contain valuable metallic elements, making them important resources for recycling. To address the dual challenge of hazardous waste management and resource recovery, sustainable approaches for metal extraction from WPCBs are imperative.

Cytosolic phospholipase A2 in infiltrating monocyte derived macrophages does not impair recovery after spinal cord injury in female mice.

Spinal cord injury (SCI) leads to permanent motor and sensory loss that is exacerbated by intraspinal inflammation and persists months to years after injury. After SCI, monocyte-derived macrophages (MDMs) infiltrate the lesion to aid in myelin-rich debris clearance. During debris clearance, MDMs adopt a proinflammatory phenotype that exacerbates neurodegeneration and hinders recovery.

Revisiting surfactant protein D: an immune surveillance molecule bridging innate and adaptive immunity.

Surfactant protein D (SP-D) is a C-type lectin that was originally discovered as a lung surfactant associated phospholipid recognising protein. It was originally shown to be of great importance in surfactant turnover and homeostasis in conjunction with another hydrophilic surfactant protein i.e.