The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.

Bridging the gap between genetic variations, environmental determinants, and phenotypic outcomes is critical for supporting clinical diagnosis and understanding mechanisms of diseases. It requires integrating open data at a global scale. The Monarch Initiative advances these goals by developing open ontologies, semantic data models, and knowledge graphs for translational research.

Hippocampal Neuroimaging-Informed Clinical Trial Enrichment Tool for Amnestic Mild Cognitive Impairment Using Open Data.

Our goal was to assess the enrichment utility of hippocampal volume (HV) as an enrichment biomarker in amnestic mild cognitive impairment (aMCI) clinical trials, and, hence, develop an HV neuroimaging-informed clinical trial enrichment tool. Modeling of integrated longitudinal patient-level data came from open-access natural history studies in patients diagnosed with aMCI-the Alzheimer's Disease Neuroimaging Initiative (ADNI)-1 and ADNI-2-and indicated that a decrease of 1 cm with respect to the analysis dataset median baseline intracranial volume-adjusted HV (ICV-HV; ~ 5 cm ) is associated with > 50% increase in disease progression rate as measured by the Clinical Dementia Rating Scale-Sum of Boxes. Clinical trial simulations showed that the inclusion of aMCI subjects with baseline ICV-HV below the 84th or 50th percentile allowed an approximate reduction in trial size of at least 26% and 55%, respectively.

Y-balance test performance and BMI are associated with ankle sprain injury in collegiate male athletes.

Objectives: To determine if static balance, dynamic balance, ankle range of motion, body mass index (BMI), or history of an ankle sprain were associated with ankle sprain injuries within male and female collegiate athletes.

Design: Prospective cohort.

Methods: Three hundred and eighty-four male (age=19.

The MSOAC approach to developing performance outcomes to measure and monitor multiple sclerosis disability.

Background: The Multiple Sclerosis Outcome Assessments Consortium (MSOAC) was formed by the National MS Society to develop improved measures of multiple sclerosis (MS)-related disability.

Objectives: (1) To assess the current literature and available data on functional performance outcome measures (PerfOs) and (2) to determine suitability of using PerfOs to quantify MS disability in MS clinical trials.

Methods: (1) Identify disability dimensions common in MS; (2) conduct a comprehensive literature review of measures for those dimensions; (3) develop an MS Clinical Data Interchange Standards Consortium (CDISC) data standard; (4) create a database of standardized, pooled clinical trial data; (5) analyze the pooled data to assess psychometric properties of candidate measures; and (6) work with regulatory agencies to use the measures as primary or secondary outcomes in MS clinical trials.

Y-Balance Test Performance Following a Competitive Field Hockey Season: A Pretest-Posttest Study.

Context: The Y-Balance Test (YBT) is a dynamic balance assessment used as a preseason musculoskeletal screen to determine injury risk. While the YBT has demonstrated excellent test-retest reliability, it is unknown if YBT performance changes following participation in a competitive athletic season.

Objective: Determine if a competitive athletic season affects YBT performance in field hockey players.

Draft genome sequence of strain Wellendorf implicates heterotrophic versatility and bioremediation potential.

is a predominant member of hydrocarbon-contaminated environments. We here report on the genomic analysis of strain Wellendorf that was isolated from an indoor door handle. The partial genome of strain Wellendorf consists of 2,916,870 bp of DNA with 2831 protein-coding genes and 49 RNA genes.

Reliability and responsiveness of gait initiation profiles in those with chronic ankle instability.

Individuals with chronic ankle instability (CAI) have demonstrated deviations in gait initiation (GI) compared to healthy individuals. However, the intersession reliability of GI measures remains unknown in this population. The objective of this study was to determine the reliability and responsiveness of GI measures between two testing days in those with CAI.

Various methods for assessing static lower extremity alignment: implications for prospective risk-factor screenings.

Context: Accurate, efficient, and reliable measurement methods are essential to prospectively identify risk factors for knee injuries in large cohorts.

Objective: To determine tester reliability using digital photographs for the measurement of static lower extremity alignment (LEA) and whether values quantified with an electromagnetic motion-tracking system are in agreement with those quantified with clinical methods and digital photographs.

Design: Descriptive laboratory study.