Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.

Tay-Sachs disease is a neurodegenerative disorder characterized by progressive neurologic impairment due to pathogenic variants in the gene that codes for the alpha subunit of β-hexosaminidase. We report 2 cases of adult-onset progressive weakness, ataxia, and neuropsychiatric symptoms in a 30-year-old man and 37-year-old woman. Both patients had compound heterozygosity in the gene with 4 distinct variants.

Analysis of time to regulatory approval in an exception from informed consent trial in trauma patients.

Background: The interactive media-based approach to community consultation and public disclosure (CC/PD), a key step when conducting exception from informed consent (EFIC) clinical trials, is intended to be completed in 4 months. This analysis characterizes the process, from initiation of CC/PD activities to institutional review board approval, to better understand the barriers and how these can be mitigated.

Methods: This is a retrospective post hoc analysis of data collected as part of the CC/PD campaigns conducted for a large trial involving up to 90 trauma centers in the United States.

Impact of lung allocation policy change on Hispanic lung transplant outcomes: Addressing disparities and improving access.

Objective: Racial disparities in organ allocation may result in differential survival for marginalized groups. This study aims to examine the impact of the November 2017 lung allocation policy change (LAPC) on trends and outcomes of Hispanic lung transplant (LT) recipients.

Methods: The United Network for Organ Sharing database was used to identify adult (older than age 18 years) LT recipients between January 2010 and March 2023.

Stressful Body Temperatures as a Maternal Effect on Lizard Reproduction.

AbstractUnderstanding the relationship between the environment parents experience during reproduction and the environment embryos experience in the nest is essential for determining the intergenerational responses of populations to novel environmental conditions. Thermal stress has become commonplace for organisms inhabiting areas affected by rising temperatures. Exposure to body temperatures that approach, but do not exceed, upper thermal limits often induces adverse effects in organisms, but the propensity for these temperatures to have intergenerational consequences has not been explored in depth.

Nurses' Perspectives on the Use of Prophylactic Dressings to Prevent Pressure Injury: A Qualitative Study.

Aim: To understand, from a nursing perspective, factors affecting the use of prophylactic dressings to prevent pressure injuries in acute hospitalised adults.

Background: Pressure injury causes harm to patients and incurs significant costs to health services. Significant emphasis is placed on their prevention.