Triplication of the Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.

Background/objectives: Developmental and epileptic encephalopathy 9 (DEE9) (MIM #300088) affects heterozygous females and males with somatic pathogenic variants, while male carriers with hemizygous pathogenic variants are clinically unaffected. There are hundreds of pathogenic single nucleotide variants in the gene reported in the literature, which lead to the loss of function of the PCDH19 protein. To date, no phenotypes associated with overexpression or copy number gains have been described in this gene.

Assessing the reliability of a digital inclinometer app for measuring hip, knee, and ankle proprioception.

Proprioception can be defined as the ability of an individual to detect motion and position of the various joints in their bodies. Current tools for measuring proprioception lack consensus on their accuracy and validity; they also each have their own limitations, and, furthermore, present barriers to use for clinicians. We propose a new and reliable method for evaluating hip, knee, and ankle proprioception by utilizing a digital inclinometer app to measure joint position sense.

The association between passenger-vehicle front-end profiles and pedestrian injury severity in motor vehicle crashes.

Introduction: Vehicles play an important role in pedestrian injury risk in crashes. This study examined the association between vehicle front-end geometry and the risk of fatal pedestrian injuries in motor vehicle crashes.

Method: A total of 17,897 police-reported crashes involving a single passenger vehicle and a single pedestrian in seven states were used in the analysis.

New variants expand the neurological phenotype of COQ7 deficiency.

The protein encoded by COQ7 is required for CoQ synthesis in humans, hydroxylating 3-demethoxyubiquinol (DMQ) in the second to last steps of the pathway. COQ7 mutations lead to a primary CoQ deficiency syndrome associated with a pleiotropic neurological disorder. This study shows the clinical, physiological, and molecular characterization of four new cases of CoQ primary deficiency caused by five mutations in COQ7, three of which have not yet been described, inducing mitochondrial dysfunction in all patients.

Vehicle front-end geometry and in-depth pedestrian injury outcomes.

Objective: Large passenger vehicles have consistently demonstrated an outsized injury risk to pedestrians they strike, particularly those with tall, blunt front ends. However, the specific injuries suffered by pedestrians in these crashes as well as the mechanics of those injuries remain unclear. The current study was conducted to explore how a variety of vehicle measurements affect pedestrian injury outcomes using crash reconstruction and detailed injury attribution.

Exploring the influence of individual factors on the perception of mental workload and body postures.

Studies have revealed that physical and mental demands, psychosocial factors, and individual factors can contribute to the development of WMSDs. Yet, much is still unknown regarding the effects of individual characteristics on WMSDs susceptibility. Previous studies discovered people assumed more awkward body postures to perform an activity when the perception of mental workload is higher.

Bicyclist crashes with cars and SUVs: Injury severity and risk factors.

Objective: The popularity of bicycle travel has increased in recent years alongside a comparable increase in the risk of injury or death for those cyclists. The current study was conducted to investigate the differences in injury outcomes between bicyclists struck by SUVs and those struck by cars and to uncover the mechanisms behind injury patterns that have been observed in past research.

Methods: We analyzed 71 single-vehicle crashes from the Vulnerable Road User Injury Prevention Alliance pedestrian crash database, focusing on crashes involving an SUV or car.

Development and Reliability of a Visual-Cognitive Reactive Triple Hop Test.

Context: Current lower-extremity return to sport testing primarily considers the physical status of an athlete; however, sport participation requires continuous cognitive dual-task engagement. Therefore, the purpose was to develop and evaluate the reliability of a visual-cognitive reactive (VCR) triple hop test that simulates the typical sport demand of combined online visual-cognitive processing and neuromuscular control to improve return to sport testing after lower-extremity injury.

Design: Test-retest reliability.

Elevated glucocorticoids during the ovarian follicular phase predict conception in wild female chacma baboons.

Mating related behavior during ovarian cycling can be energetically demanding and constitute a significant stressor, requiring physiological responses to mediate investment in reproduction. To better understand the proximate mechanisms underlying these responses, we examine hormonal and behavioral variation across the ovarian cycle during conceptive and nonconceptive cycles in wild female chacma baboons (Papio ursinus). We quantified immunoreactive fecal estradiol, progesterone, and cortisol metabolites for 21 adult females, and calculated activity budgets and rates of received aggression from over 5000 15-min behavioral samples.

IIHS small overlap frontal crash test ratings and real-world driver death risk.

Objective: To evaluate how ratings for the Insurance Institute for Highway Safety (IIHS) driver-side small-overlap frontal crash test predict real-world driver death risk in frontal impacts.

Methods: IIHS released the driver-side small-overlap frontal crash test in 2012, after manufacturers had improved vehicle designs to make good ratings in the IIHS moderate overlap frontal crash test virtually ubiquitous. In the small overlap test, the vehicle impacts a rigid barrier at 40 mph (64 km/h) with 25% of the vehicle's width overlapping the barrier.

FAIR Island: real-world examples of place-based open science.

The relationship between people, place, and data presents challenges and opportunities for science and society. While there has been general enthusiasm for and work toward Findable, Accessible, Interoperable, and Reusable (FAIR) data for open science, only more recently have these data-centric principles been extended into dimensions important to people and place-notably, the CARE Principles for Indigenous Data Governance, which affect collective benefit, authority to control, responsibility, and ethics. The FAIR Island project seeks to translate these ideals into practice, leveraging the institutional infrastructure provided by scientific field stations.

Characterizing impact and providing perspective by assessing National Biomechanics Day events.

In this Perspective article we make the case for assessing National Biomechanics Day in order to better understand and maximum its impact. We present the opportunities and benefits that exist to assess National Biomechanics Day, as well as suggest assessment resources and tools that can be utilized. A case study is also included that details the ways that including assessment via a pre- and post-National Biomechanics Day survey provided insight into how our event changed student perceptions related to biomechanics, as well as informed us about how we might improve our event in the future.

Associations Between Cognitive Function and ACL Injury-Related Biomechanics: A Systematic Review.

Context: Does lower baseline cognitive function predispose athletes to ACL injury risk, especially when performing unplanned or dual-task movements?

Objective: To evaluate the association between cognitive function and biomechanics related to ACL injuries during cognitively challenging sports movements.

Data Sources: PubMed (MEDLINE), Web of Science, Scopus, and SciELO databases were searched; additional hand searching was also conducted.

Study Selection: The following inclusion criteria had to be met: participants completed (1) a neurocognitive test, (2) a cognitively challenging sport-related task involving lower limbs, and (3) a biomechanical analysis.

Effects of virtual reality immersion on postural stability during a dynamic transition task.

Dynamic postural stability paradigms with virtual reality (VR) provide a means to simulate real-world postural challenges and induce customised but controlled perturbations. The purpose of this study was to determine the effects of a VR unanticipated perceptual sport perturbation on postural stability compared to traditional methods. Sixteen individuals between the ages of 18-23 years (19.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Purpose: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to be reported.

Methods: Genotype and phenotype data were collated and analyzed for 61 biallelic PIGN cases: 21 new and 40 previously published cases.

Development and reliability of a visual-cognitive medial side hop for return to sport testing.

Objectives: To develop and evaluate the reliability of a new visual-cognitive medial side hop (VCMH) test that challenges physical and cognitive performance to potentially improve return to sport testing.

Design: Test-retest experimental design.

Setting: Laboratory.

Effects of cognitive- and motor-dual tasks on postural control regularity following anterior cruciate ligament reconstruction.

Background: High injury rates following anterior cruciate ligament reconstruction (ACLR) motivate the need to better understand lingering movement deficiencies following return to sport. Athletic competition involves various types of sensory, motor, and cognitive challenges; however, postural control deficiencies during this spectrum of conditions are not well understood following ACLR.

Research Question: To what extent is postural control altered following ACLR in the presence of sensory, motor, and cognitive challenges, and does postural control correlate with patient-reported symptoms?

Methods: Fourteen individuals following ACLR (4 m/10 f, 21.

Changes in Traffic Crash Rates After Legalization of Marijuana: Results by Crash Severity.

Objective: The objective of this study was to estimate the effects of marijuana legalization and the subsequent onset of retail sales on injury and fatal traffic crash rates in the United States during the period 2009-2019.

Method: State-by-state quarterly crash rates per mile of travel were modeled as a function of time, unemployment rate, maximum posted speed limit, seat belt use rate, alcohol use rate, percent of miles driven on rural roads, and indicators of legalized recreational marijuana use and sales.

Results: Legalization of the recreational use of marijuana was associated with a 6.

Influence of serial subtraction tasks on transient characteristics of postural control.

We sought to better understand the influence of cognitive perturbations on transient aspects of postural control. Twenty healthy, younger adults had their postural control assessed during eyes open quiet stance. Participants completed three different conditions that either had no cognitive perturbation present, an easy cognitive perturbation (i.

PIGN encephalopathy: Characterizing the epileptology.

Objective: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy.

Methods: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment.

Extending the Phenotype Related to Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Background: Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the gene.

Methods: The study was carried out in 15 patients with variants. The complete phenotype of the patients was evaluated.

Speeding behavior while using adaptive cruise control and lane centering in free flow traffic.

Objective: Adaptive cruise control (ACC) and lane centering are usually marketed as convenience features but may also serve a safety purpose. However, given that speeding is associated with increased crash risk and worse crash outcomes, the extent to which driver's speed using ACC may reduce the maximum safety benefit they can obtain from this system. The current study was conducted to characterize speeding behavior among drivers using adaptive cruise control and a similar system with added lane centering.