Citations

Krabbe disease (KD) is a rare, inherited leukodystrophy associated with early mortality. Infantile Krabbe disease (IKD) was added to the Recommended Uniform Screening Panel (RUSP) in July 2024. Since then, U.S. states have continued to evaluate implementing KD newborn screening (NBS), and RUSP inclusion has hastened adoption efforts. This study aimed to characterize NBS program responses to this recommendation and identify factors influencing adoption and implementation. A mixed-methods approach was used, including a case review of Wisconsin’s process to add conditions to its NBS panel and a cross-sectional survey of U.S. NBS programs. Responses were obtained from 50 of 51 NBS programs. Twenty-two programs actively screen for KD, with ten additional programs in the implementation process. Screening approaches varied, particularly in psychosine (PSY) cutoff thresholds and testing algorithms. Programs reported a range of adoption pathways, including legislative mandates, advisory committee review, and state-specific nomination processes. Key factors impacting KD NBS adoption included uncertainty regarding treatment safety, efficacy, and availability, ethical considerations related to identifying later-onset disease, and logistical challenges such as laboratory readiness and clinical follow-up resources. This study provides a contemporary overview of national implementation of KD NBS and offers practical insights for programs considering adoption.

Abstract Clinical and translational research is important for health care and the growth of medical specialties. Physical medicine and rehabilitation offers many opportunities for research, but research growth in physical medicine and rehabilitation is lacking, and research resources and productivity vary across academic physical medicine and rehabilitation departments across North America. The Physiatric Research Consulting Program was developed by the Association of Academic Physiatrists to provide customized recommendations to enhance research capacity and productivity in physical medicine and rehabilitation departments. This report outlines the three components of the Physiatric Research Consulting Program, including a previsit needs assessment, an in-person visit, and a postvisit follow-up final report. The report also provides a qualitative assessment of the impact of the Physiatric Research Consulting Program, with general themes of feedback, site visit evaluations, and final report evaluations. The Physiatric Research Consulting Program was found to be valuable in identifying gaps and needs for physical medicine and rehabilitation departments, providing outside perspectives, and energizing faculty toward research growth in their departments.

Importance Obesity is a risk factor associated with multiple myeloma (MM) and its precursor, monoclonal gammopathy of unknown significance (MGUS). However, it is unclear how cumulative exposure to obesity affects the risk of MGUS progression to MM. Objective To determine the association of cumulative exposure to excess body mass index (EBMI), defined as BMI (calculated as weight in kilograms divided by height in meters squared) greater than 25, with risk of MGUS progression to MM. Design, Setting, and Participants This cohort study included patients with MGUS, including immunoglobin G, immunoglobin A, or light chain MGUS, from the nationwide US Veterans Health Administration database from October 1, 1999, to December 31, 2021. A published natural language processing–assisted model was used to confirm diagnoses of MGUS and progression to MM. Data were analyzed from February 12 to November 4, 2024. Exposures Cumulative EBMI was calculated by area under the curve of measured BMI subtracting the reference BMI at 25 during the first 3 years after MGUS diagnosis. Main Outcomes and Measures The main outcome was progression from MGUS to MM. Multivariable Fine-Gray time-to-competing-event analyses, with death as the competing event, were used to determine associations. Results The cohort included 22 429 patients with MGUS (median [IQR] age, 70.5 [63.5-77.9] years; 21 613 [96.4%] male), with 8329 Black patients (37.1%) and 14 100 White patients (62.9%). There were 4862 patients (21.7%) with reference range BMI (18.5 to <25), 7619 patients (34.0%) with BMI 25 to less than 30, and 8513 patients (38.0%) with BMI 30 or greater at the time of MGUS diagnosis. Compared with reference range BMI at MGUS diagnosis, patients with BMI 25 to less than 30 (adjusted hazard ratio [aHR], 1.17; 95% CI, 1.03-1.34) or 30 or greater (aHR, 1.27; 95% CI, 1.09-1.47) at MGUS diagnosis had higher risk of progression to MM. In patients with reference range BMI at MGUS diagnosis, each 1-unit increase of EBMI per year was associated with a 21% increase in progression risk (aHR, 1.21; 95% CI, 1.04-1.40). However, for patients with BMI 25 or greater at MGUS diagnosis, the incremental risk associated with cumulative EBMI exposure was not statistically significant. Conclusions and Relevance This cohort study found that, for patients with BMI 18.5 to less than 25 at the time of MGUS diagnosis, cumulative exposure to BMI 25 or greater was associated with an increased risk of progression. These findings suggest that for these patients, maintaining a healthy and stable weight following MGUS diagnosis may prevent progression to MM.