A global perspective on research advances and future challenges in Friedreich ataxia.

Friedreich ataxia (FRDA) is a rare multisystem, life-limiting disease and is the most common early-onset inherited ataxia in populations of European, Arab and Indian descent. In recent years, substantial progress has been made in dissecting the pathogenesis and natural history of FRDA, and several clinical trials have been initiated. A particularly notable recent achievement was the approval of the nuclear factor erythroid 2-related factor 2 activator omaveloxolone as the first disease-specific therapy for FRDA.

Diagnostic disparities in inborn errors of immunity: From clinical suspicion to diagnosis.

Background: Emerging evidence suggests that inborn errors of immunity (IEI) are underdiagnosed among underserved populations. However, there remains a lack of national studies evaluating diagnostic disparities in IEI.

Objective: We examined disparities in the timely IEI diagnosis and related health outcomes.

Evaluating large language model performance to support the diagnosis and management of patients with primary immune disorders.

Background: Generative artificial intelligence (GAI) is transforming health care in a variety of ways; however, the present utility of GAI for supporting clinicians who treat rare disease such as primary immune disorders (PIs) is not well studied. We evaluated the ability of 6 state-of-the-art large language models (LLMs) for providing clinical guidance about PIs.

Objective: To quantitatively and qualitatively measure the utility of current, open-source LLMs for diagnosing and providing helpful clinical decision support about PIs.

Ambulatory children with spastic cerebral palsy have smaller bone area and deficits in trabecular microarchitecture.

Cerebral palsy (CP) is a non-progressive neurological syndrome resulting in abnormal muscle tone, movement, and posture. It is unclear whether ambulatory children with CP have deficits in bone quantity or quality. Furthermore, the relationship between abnormal muscle tone, altered function, and bone health remains largely unexplored.

Prosocial Intentions and Subsequent Cognitive Health: A Prospective Cohort Study.

Objectives: Prosociality, defined as positive other-regarding intentions and behaviors, is a modifiable factor demonstrated to be associated with better mental, physical, and cognitive health in older adults. Prior studies have largely focused on individual prosocial behaviors, especially volunteering. This study examines whether prosocial intentions are associated with maintaining cognitive health over time.