Pathogenic variants in KMT5B , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM # 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest ( n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B -related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.

Traumatic spinal cord injury (SCI) results in wide-ranging cellular and systemic dysfunction in the acute and chronic time frames after the injury. Chronic SCI has well-described secondary medical consequences while acute SCI has unique metabolic challenges as a result of physical trauma, in-patient recovery and other post-operative outcomes. Here, we used high resolution mass spectrometry approaches to describe the circulating lipidomic and metabolomic signatures using blood serum from mice 7 d after a complete SCI. Additionally, we probed whether the aporphine alkaloid, boldine, was able to prevent SCI-induced changes observed using these ‘omics platforms’. We found that SCI resulted in large-scale changes to the circulating lipidome but minimal changes in the metabolome, with boldine able to reverse or attenuate SCI-induced changes in the abundance of 50 lipids. Multiomic integration using xMWAS demonstrated unique network structures and community memberships across the groups.

This investigation aimed to determine the effect of a multi-ingredient pre-workout supplement (MIPS) on heart rate (HR), perceived exertion (RPE), lactate concentration, and time to fatigue (TTF) during a running task to volitional exhaustion. Eleven NCAA Division I cross-country runners (20 ± 2 year; height: 171 ± 14 cm; weight: 63.5 ± 9.1 kg) participated in this randomized, double-blind, placebo-controlled cross-over study. Bayesian statistical methods were utilized, and parameter estimates were interpreted as statistically significant if the 95% highest-density intervals (HDIs) did not include zero. TTF was increased in the MIPS condition with a posterior Mean_diff = 154 ± 4.2 s (95% HDI: −167, 465) and a 0.84 posterior probability that the supplement would increase TTF relative to PL. Blood lactate concentration immediately post-exercise was also higher in the MIPS condition compared to PL with an estimated posterior Mean_diff = 3.99 ± 2.1 mmol (95% HDI: −0.16, 7.68). There were no differences in HR or RPE between trials. These findings suggest that a MIPS ingested prior to sustained running at lactate threshold has an 84% chance of increasing TTF in highly trained runners and may allow athletes to handle a higher level of circulating lactate before reaching exhaustion.

A momentous amount of health data has been and is being collected. Across all levels of health care, data are driving decision-making and impacting patient care. A new field of knowledge and role for those in health care is emerging—the need for a health data–informed workforce. In this viewpoint, we describe the approaches needed to build a health data–informed workforce, a new and critical skill for the health care ecosystem.

The current study examined differences in heart rate variability (HRV) across student-athletes of different eligibility classifications and analyzed differences in HRV when competing at home or away. Fourteen female collegiate volleyball players volunteered for the study. Data collection encompassed an entire collegiate season, with comparisons in HRV made between home and away games, as well as pre-gameday, gameday, and post-gameday recordings for the whole squad. Comparisons were also made between student-athlete eligibility classification, with self-reported measures of sleep quality, fatigue, muscle soreness, stress, and mood recorded at the time of HRV measurement. Freshman athletes reported a significantly (p < 0.05, η² = 0.17) lower HRV (80.3 ± 9.7) compared to sophomore (85.7 ± 7.2), junior (91.2 ± 8.3), and senior (86.5 ± 7.2) athletes, while junior athletes had a significantly higher HRV when compared to sophomore and senior athletes. All athlete classifications reported similar HRV for home and away games, and there was no difference in HRV for any athlete classification group when comparing pre-gameday, gameday, and post-gameday measures. Freshman athletes reported significantly (p < 0.05, η² = 0.23) worse mood states compared to the other eligibility classifications, while self-reported stress was significantly (p < 0.05) worse in junior and senior athletes. Results suggest that monitoring the workload of student-athletes based on their eligibility classification holds merit. Collegiate coaching and support staff should be aware of the academic and competitive demands placed on their student-athletes. In particular, freshman athletes adjusting to the increased demands placed on them as collegiate student-athlete may warrant additional support.