The 'vulnerable nerve'; surgically acquired neuropathy in distal humeral surgery patients and the role of a tourniquet.

Background: The complication of neuropathy is high in patients undergoing distal humerus surgery. Tourniquets (TQs) are typically used but can lead to nerve injury.

Methods: We present a comparative study of a pre-intervention group ( = 38) and a post-intervention group ( = 38) undergoing distal humerus surgery between November 2020 and July 2023.

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Plasma membrane calcium ATPases (PMCAs) encoded by ATP2B genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability. Work to date has shown that ATP2B2 (encoding PMCA2) is required for synaptic function and Purkinje-cell integrity in the cerebellum. A recent case series has linked ATP2B2 to a novel entity, characterized by neurodevelopmental and movement phenotypes, in only seven individuals.

Pain management challenges in a patient with mucopolysaccharidosis IVA.

It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.

Intellectual disability: A potentially treatable condition.

The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual disability and improved our understanding of the neuronal processes that result in cognitive impairment. Meanwhile, families are building rare disease communities and seeking disease-specific treatments to change the trajectory of health and developmental outcomes for their children. To date, treatments for intellectual disability have focussed on metabolic disorders, where early treatment has improved cognition and neurodevelopmental outcomes.