Resolution of variable expressivity in a multi-generational family using deep clinical phenotyping and models.

Purpose: Variants in result in a rare neurodevelopmental disorder characterized by a variable clinical presentation of symptoms including developmental delay, epilepsy, motor dysfunction, and autism spectrum disorder. haploinsufficiency has been confirmed as the predominant pathway of related neurodevelopmental disorders (NDDs), however, the molecular mechanism underlying the variable clinical presentation remains unclear.

Methods: Here, through work of the Undiagnosed Diseases Network, we identify an undiagnosed individual with an inherited p.

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Purpose: Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 (HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 and has not been implicated in human disease.

Methods: We identify 5 unrelated individuals with de novo heterozygous variants in RBBP5.

Dancing in the purple rain: color affinity and oviposition choices in Aedes sierrensis (Diptera: Culicidae).

The western tree hole mosquito, Aedes sierrensis (Ludlow) (Diptera: Clucidae), is a pestiferous mosquito with a range extending over the entire pacific seaboard and into portions of the intermountain west. As a peridomestic heartworm vector, it demands at least some level of surveillance to understand its abundance. However, the species is refractory to a majority of conventional vector surveillance approaches for tracking mosquitoes.

A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins.

Development of effective therapies against SARS-CoV-2 infections relies on mechanistic knowledge of virus-host interface. Abundant physical interactions between viral and host proteins have been identified, but few have been functionally characterized. Harnessing the power of fly genetics, we develop a comprehensive Drosophila COVID-19 resource (DCR) consisting of publicly available strains for conditional tissue-specific expression of all SARS-CoV-2 encoded proteins, UAS-human cDNA transgenic lines encoding established host-viral interacting factors, and GAL4 insertion lines disrupting fly homologs of SARS-CoV-2 human interacting proteins.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

EZH1, a polycomb repressive complex-2 component, is involved in a myriad of cellular processes. EZH1 represses transcription of downstream target genes through histone 3 lysine27 (H3K27) trimethylation (H3K27me3). Genetic variants in histone modifiers have been associated with developmental disorders, while EZH1 has not yet been linked to any human disease.

Multi-Modal Neurorehabilitation for Persisting Post-Concussion Symptoms.

Treatment of the chronic sequela that persist after a mild traumatic brain injury has been challenging with limited efficacy. The aim of this work was to report outcomes obtained from persons who met the criteria of persisting post-concussive symptoms (PPCS), utilizing a novel combination of modalities in a structured neurorehabilitation program. This work was designed as a retrospective, pre-post chart review of objective and subjective measures collected from 62 outpatients with PPCS a mean of 2.

A missense variant in associated with developmental delay exhibits functional deficits in .

( , a Polycomb Repressive Complex-2 (PRC2) component, is involved in a myriad of cellular processes through modifying histone 3 lysine27 (H3K27) residues. represses transcription of downstream target genes through H3K27 trimethylation (H3K27me3). Genetic mutations in histone modifiers have been associated with developmental disorders, while has not yet been linked to any human disease.

Effects of a level-of-care tool on admission placement and rapid response use.

Nurses promote performance improvement efforts that advance the practice of nursing and enhance outcomes. This special section highlights three successful performance improvement initiatives that showcase the value of these efforts.

Clinical Integration of Community Health Workers to Reduce Health Inequities in Overburdened and Under-Resourced Populations.

The COVID-19 response has resulted in broader awareness of health inequities across the United States and their impact on overburdened and under-resourced communities. Investing in and more effectively integrating community health workers (CHWs) into health care delivery been prioritized in the COVID-19 response given the importance of trust and community connection to move people toward behavior change during times of uncertainty. CHWs serve as liaisons and connectors between patients, communities, and health/social care systems, providing culturally appropriate education and addressing complex social needs within the individual and community context.

Single-item measures of stress during work- and private time in healthcare workers.

Background: While the psychosocial work environment within the hospital sector is a topic of great debate, surveys assessing stress often do not differentiate between stress related to work- and private life. Identifying risk factors associated with these domains of daily life would help improve policies as well as target relevant treatment options. Therefore, the aim of this study was to evaluate associations between stress during to work- and private time with Cohen's Perceived Stress Scale (CPSS).

Insights on COVID-19 From Community Health Worker State Leaders.

Community health workers (CHWs) leverage their trusting relationships with underresourced populations to promote health equity and social justice in their communities. Little is known about CHWs roles in addressing COVID-19 or how the pandemic may have affected CHWs' ability to interact with and support communities experiencing disparities. A focus group with CHW leaders from 7 states revealed 8 major themes: CHW identity, CHW resiliency, self-care, unintended positives outcomes of COVID-19, technology, resources, stressors, and consequences of COVID-19.

Physical and Psychosocial Work Environmental Risk Factors for Back Injury among Healthcare Workers: Prospective Cohort Study.

The incidence of occupational back injury in the healthcare sector remains high despite decades of efforts to reduce such injuries. This prospective cohort study investigated the risk factors for back injury during patient transfer. Healthcare workers ( = 2080) from 314 departments at 17 hospitals in Denmark replied to repeated questionnaires sent every 14 days for one year.

Improving the patient experience through a comprehensive performance framework to evaluate excellence in person-centred care.

Background: Person-centred care (PCC) is now recognised as an important component of healthcare quality. However, a lack of consensus of its most critical elements and absence of a global measure of person-centredness has limited the ability to evaluate the impact of implementation.

Aim: Introduce a measurable construct for PCC that yields improvement in quality, patient loyalty and staff engagement.

Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy.

Background: Autism spectrum disorder is commonly co-diagnosed intellectual disability, language disorder, anxiety, and epilepsy, however, symptom management is difficult due to the complex genetic nature of ASD.

Methods: We present a next-generation sequencing-based case study with both de novo and inherited genetic variants and highlight the impact of structural variants on post-translational regulation of protein expression. Since management of symptoms has classically been through pharmaceutical therapies, a pharmacogenomics screen was also utilized to determine possible drug/gene interactions.

Patient-Surgeon Relationship Influences Outcomes in Bariatric Patients.

Bariatric surgery is an important therapy in weight loss. However, adherence to follow-up is critical and may be influenced by the patient-surgeon relationship. To test this hypothesis, bariatric surgical patients were surveyed from March 2013 to March 2015 the National Association for Weight Loss Surgery webpage and social media outlets.

Association of Stress and Musculoskeletal Pain With Poor Sleep: Cross-Sectional Study Among 3,600 Hospital Workers.

While acute stress and pain are part of our inherent survival mechanisms, persistent stress and pain can negatively impact health and well-being. This may also lead to poor sleep and thus a lack of recovery. This study investigated the influence of stress and musculoskeletal pain on sleep quality.

A dated molecular phylogeny of mite harvestmen (Arachnida: Opiliones: Cyphophthalmi) elucidates ancient diversification dynamics in the Australian Wet Tropics.

Austropurcellia, a genus of dispersal-limited arachnids endemic to isolated patches of coastal rainforest in Queensland, Australia, has a remarkable biogeographic history. The genus is a member of the family Pettalidae, which has a classical temperate Gondwanan distribution; previous work has suggested that Austropurcellia is an ancient lineage, with an origin that predates Gondwanan rifting. Subsequently, this lineage has persisted through major climatic fluctuations, such as major aridification during the Miocene and contraction and fragmentation of forest habitats during the Last Glacial Maximum (LGM).

Literature-based latitudinal distribution and possible range shifts of two US east coast dune grass species ( and ).

Previous work on the US Atlantic coast has generally shown that coastal foredunes are dominated by two dune grass species, (American beachgrass) and (sea oats). From Virginia northward, dominates, while is the dominant grass south of Virginia. Previous work suggests that these grasses influence the shape of coastal foredunes in species-specific ways, and that they respond differently to environmental stressors; thus, it is important to know which species dominates a given dune system.

Physical activity during work and leisure show contrasting associations with fear-avoidance beliefs: cross-sectional study among more than 10,000 wage earners of the general working population.

Background And Aims: The association between different types of physical activity and fear-avoidance beliefs remains unclear. This study investigates the association between work-related and leisure-time physical activity with fear-avoidance beliefs in the general working population.

Methods: Currently employed wage earners (n=10,427) from the 2010 round of the Danish Work Environment Cohort Study replied to questions about work, lifestyle and health.

Can high social capital at the workplace buffer against stress and musculoskeletal pain?: Cross-sectional study.

Work-related musculoskeletal pain and stress are both highly prevalent in the working environment and relate well to the biopsychosocial model. While the onset of musculoskeletal pain is often dependent on the biological element of the biopsychosocial model, chronic pain is often influenced by psychological and social factors. Similarly, stress is also influenced by biological, psychological, and social factors.

Patient Transfers and Risk of Back Injury: Protocol for a Prospective Cohort Study With Technical Measurements of Exposure.

Background: More than one third of nurses experience musculoskeletal pain several times during a normal work week. Consistent use of assistive devices during patient transfers is associated with a lower risk of occupational back injuries and low back pain (LBP). While uncertainties exist regarding which type of assistive devices most efficiently prevent LBP, exposure assessments using technological advancements allow for quantification of muscle load and body positions during common work tasks.

Electromyographic comparison of conventional machine strength training versus bodyweight exercises in patients with chronic stroke.

Objective: To investigate whether bodyweight exercises can induce comparable levels of muscle activity as conventional machine exercises in chronic stroke patients.

Methods: Eighteen patients performed three repetitions of bilateral- and unilateral machine leg press and the bodyweight exercises chair rise and hip thrust. Surface electromyography (EMG) was recorded from 10 lower extremity muscles and normalized to maximal EMG (nEMG) of the non-paretic leg.

Neurocognitive performance and physical function do not change with physical-cognitive-mindfulness training in female laboratory technicians with chronic musculoskeletal pain: Randomized controlled trial.

Background: Cognitive and physical performance can be negatively affected by chronic pain. This study evaluates the effect of combined physical-, cognitive-, and mindfulness training (PCMT) on cognitive and physical performance.

Methods: From a large pharmaceutical company in Denmark we randomly allocated 112 female laboratory technicians with chronic upper limb pain to group-based PCMT at the worksite or a reference group for 10 weeks.