Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency.

Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. There are no available targeted therapies for MSD.

Methods: We engineered a viral vector (AAV9/SUMF1) to deliver working copies of the SUMF1 gene and tested the vector in Sumf1 knock out mice that generally display a median lifespan of 10 days.

Ophthalmic Outcomes in Children With Spina Bifida Myelomeningocele in Ireland.

Purpose: To investigate the ophthalmic complications associated with spina bifida myelomeningocele (SBM) in Irish children and to evaluate the impact of spinal lesion levels and shunt status on visual outcomes.

Methods: A retrospective audit was conducted on 129 children with SBM, examining visual acuity, refractive errors, strabismus, papilledema, optic atrophy, and cortical visual impairment (CVI). The median age of participants was 6.

Feasibility of In-Hospital Administration of a Tool to Predict Persistent Post-ICU Functional Impairment Among Older ICU Survivors: A Pilot Study.

Background: A recent international consensus conference called for the development of risk prediction models to identify ICU survivors at increased risk of each of the post-ICU syndrome domains. We previously developed and validated a risk prediction tool for functional impairment after ICU admission among older adults.

Research Question: In this pilot study, we assessed the feasibility of administering the risk prediction tool in the hospital to older adults who had just survived critical illness.

Burnout in Military Orthopedic Surgeons: A Multicenter, Cross-Sectional Study.

Background: High rates of burnout are prevalent in U.S. physicians with evidence that the rates are increasing.

Assessing the Nutrient Composition of a Carnivore Diet: A Case Study Model.

Background/objectives: The rise in chronic metabolic diseases has led to the exploration of alternative diets. The carnivore diet, consisting exclusively of animal products, has gained attention, anecdotally, for imparting benefit for inflammatory conditions beyond that possible by other restrictive dietary approaches. The aim was to assess the micronutrient adequacy of four versions of the carnivore diet against national nutrient reference values (NRVs).