A link between baseline neurofilament light chain and primary substrate accumulation in cerebrospinal fluid, and clinical outcomes in patients with MPS II from a phase 2/3 clinical trial and extension study of intrathecal idursulfase.

Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, X-linked, recessive lysosomal storage disorder that impacts approximately 1:162000 live births. It is caused by deficiencies in the lysosomal enzyme iduronate-2-sulfatase (I2S), resulting in harmful accumulation of specific glycosaminoglycans in cells, tissues and organs throughout the body. Clinical manifestations are varied and include airway obstruction, impaired mobility and, in two-thirds of cases, neurocognitive impairment (neuronopathic MPS II).

From Bench to Bedside: Unraveling Cerebral Malaria and Malarial Retinopathy by Combining Clinical and Pre-Clinical Perspectives.

Infection with carries a significant risk of cerebral malaria (CM). Children are particularly susceptible to human CM (HCM) which manifests as an acute neurovascular encephalopathy leading to high levels of mortality. Occurring in parallel with CM, malarial retinopathy (MR) is readily detected on ophthalmoscopy as one or more of: white-centered retinal hemorrhage, retinal whitening, and vessel discoloration.

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a common, inherited nephropathy often resulting in kidney failure. It is genetically heterogeneous; along with the major genes, PKD1 and PKD2, at least 8 others have been suggested. ALG8 pathogenic variants have been associated with autosomal dominant polycystic liver disease and implicated in ADPKD, while ALG9 has been suggested as an ADPKD gene, but details of the phenotypes and penetrance are unclear.

The Cambridge Knee Injury Tool (CamKIT): a clinical prediction tool for acute soft tissue knee injuries.

Background/aim: This study focuses on the development of the Cambridge Knee Injury Tool (CamKIT), a clinical prediction tool developed as a 12-point scoring tool based on a modified e-Delphi study.

Methods: A retrospective cohort evaluation was conducted involving 229 patients presenting to a Major Trauma Centre with acute knee pain over 3 months. The evaluation extracted data on the 12 scoring tool variables as well as diagnostic and management pathway outcomes.

Towards a Platform Chromatography Purification Process for Adeno-Associated Virus (AAV).

Adeno-associated virus (AAV) is a versatile viral vector technology that can be engineered for specific functionality in vaccine and gene therapy applications. One of the major challenges in AAV production is the need for a GMP-ready platform-based approach to downstream processing, as this would lead to a standardized method for multiple products. Chromatography has huge potential in AAV purification, as it is a scalable method that would enable manufacturing to a high degree of purity, potency, and consistency.