Impact of integrated translational research on clinical exome sequencing.

Purpose: Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a conclusive diagnosis. To provide comprehensive genomic testing to patients with undiagnosed disease, we established an Individualized Medicine Clinic, which offered clinical exome testing and included a Translational Omics Program (TOP) that provided variant curation, research activities, or research exome sequencing.

Advancing the Safety, Health, and Well-Being of Commercial Driving Teams Who Sleep in Moving Semi-Trucks: The Tech4Rest Pilot Study.

Objective: To test the feasibility, acceptability, and potential effectiveness of engineering and behavioral interventions to improve the sleep, health, and well-being of team truck drivers (dyads) who sleep in moving semi-trucks.

Methods: Drivers (n = 16) were exposed to Condition A: a new innerspring mattress, and Condition B: a novel therapeutic mattress. A subsample of drivers (n = 8) were also exposed to Condition C: use of their preferred mattress (all chose to keep B), switching to an active suspension driver's seat, and completing a behavioral sleep-health program.

Rallying Against Racism: Hospitals Join the Fight for Racial Justice.

This article highlights the timely situation that resident physicians, faculty, and staff are facing after the recent highly publicized murders of Black Americans and its impact on our healthcare communities. We discuss our experiences of how the hospital can serve as a meeting place for anti-racism, as well as how anti-racist events at the hospital can raise public consciousness and be catalysts for creating a more inclusive, diverse, and welcoming environment for all members of hospital communities.

Predicting antimicrobial resistance using conserved genes.

A growing number of studies are using machine learning models to accurately predict antimicrobial resistance (AMR) phenotypes from bacterial sequence data. Although these studies are showing promise, the models are typically trained using features derived from comprehensive sets of AMR genes or whole genome sequences and may not be suitable for use when genomes are incomplete. In this study, we explore the possibility of predicting AMR phenotypes using incomplete genome sequence data.

Infliximab Trough Levels Are Not Predictive of Relapse in Patients with IBD in Endoscopic Remission: A Multicenter Cohort Study.

Background: Therapeutic drug monitoring (TDM) is important in optimizing use of biologics in inflammatory bowel diseases (IBD). However, the role of proactive TDM during remission remains uncertain.

Methods: This retrospective study included patients receiving infliximab (IFX) therapy at Massachusetts General Hospital or Erasmus University Medical Center.

Variation in early number skills and mathematics achievement: Implications from cognitive profiles of children with or without Turner syndrome.

Individuals with Mathematics Learning Disabilities have persistent mathematics underperformance but vary with respect to their cognitive profiles. The present study examined mathematics ability and achievement, and associated mathematics-specific numerical skills and domain-general cognitive abilities, in young children with Turner syndrome compared to their matched peers. We utilized two independent peer groups so that group comparisons would account for verbal skills, a hypothesized strength of girls with Turner syndrome, and nonsymbolic magnitude comparison skills, a hypothesized difference of girls with Turner syndrome.

Exploring biopsychosocial correlates of pain, pain management strategies, and risk for opioid misuse among home care workers in Washington State.

Home care workers (HCWs) are at high risk for musculoskeletal pain and injury, and they are an important population for pain management research and intervention. The purpose of this study was to gather novel data on HCWs' work characteristics, pain experiences, pain management strategies, and risk for opioid misuse. A survey invitation was e-mailed to a random sub-sample of HCWs in Washington State, and 421 responded.

Patient-reported outcome measures in patients undergoing radiotherapy for head and neck cancer.

Objectives: Head and neck (H&N) cancer patients experience significant acute side effects from treatment. This study evaluates prospectively collected patient-reported outcomes (PROs) in H&N patients undergoing radiotherapy (RT) to assess feasibility of electronically collecting PROs and to objectively document symptom acuity and trajectory during RT.

Materials And Methods: H&N patients undergoing radical RT at our multicentre institution completed a 12-item partial survey of the Vanderbilt Head & Neck Symptom Survey 2.

Synthesis of functionalized derivatives of the gamma-secretase modulator BMS-932481 and identification of its major metabolite.

In an effort to improve physical properties by introducing polar functionality into the bicyclic pyrimidine gamma-secretase modulator (GSM) clinical candidate BMS-932481, we prepared several oxidative products of BMS-932481. Among the analogs that were prepared, the C-5 alcohol 3 was identified as the predominant metabolite of BMS-932481 found in rat and human liver microsomes. Alcohol 3 was determined to be chemically unstable, leading to the hypothesis that 3 may lead to the production of reactive species both in vitro and in vivo.

Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age.

Background After sudden cardiac death in people aged <40 years, heart weight is a surrogate for cardiomegaly and a marker for cardiomyopathy. However, thresholds for cardiomegaly based on heart weight have not been validated in a cohort of cases of sudden cardiac death in young people. Methods and Results We surveyed medical examiner offices to determine which tools were used to assess heart weight norms.

A Combination Approach to Treating Acne Scars in All Skin Types: Carbolic Chemical Reconstruction of Skin Scars, Blunt Bi-level Cannula Subcision, and Microneedling-A Case Series.

Acne is a common condition that often results in scarring. Current treatment options, such as chemical peels, laser therapy, radiofrequency, subcision, and microneedling, all have some efficacy in the treatment of acne scars. Results can vary based on the type of scarring and the treatment modality used.

Population-based outcomes by immunosuppressed status in patients undergoing radiotherapy for oropharyngeal cancer.

Introduction: The incidence of immunosuppression in patients with oropharynx head & neck squamous cell carcinoma (SCC) is not well studied. This study evaluates disease characteristics and treatment outcomes in oropharynx SCC in patients with and without immunosuppression.

Methods: A retrospective review of all patients treated with radiotherapy for oropharynx SCC at BC Cancer from 2011 to 2016 was performed.

Exploring the Influence of Early Childhood Education and Care on the Etiology of Achievement.

The present study used a genetically-sensitive quantile regression approach to examine the relation between participation in early childhood education and care (ECEC) and subsequent school performance in literacy and numeracy at grades 3, 5, 7, and 9. The sample consisted of 1255 twin pairs (596 MZ; 659 DZ) with information on both ECEC and the National Assessment Program-Literacy and Numeracy (NAPLAN) scores from the Twin Study of NAPLAN. Results indicated variation in heritability estimates across the distributions of achievement, suggesting that different patterns of etiological influences may exist among children of different ability levels.

Predictors of radiation necrosis in long-term survivors after Gamma Knife stereotactic radiosurgery for brain metastases.

Background: The long-term risk of necrosis after radiosurgery for brain metastases is uncertain. We aimed to investigate incidence and predictors of radiation necrosis for individuals with more than 1 year of survival after radiosurgery for brain metastases.

Methods: Patients who had a diagnosis of brain metastases treated between December 2006 and December 2014, who had at least 1 year of survival after first radiosurgery were retrospectively reviewed.

Challenging Aggressive Behaviors Experienced by Personal Support Workers in Comparison to Home Care Workers: Relationships between Caregiver Experiences and Psychological Health.

Personal support workers (PSW) are caregivers for children and adults with intellectual and developmental disabilities (IDDs) or adults experiencing mental illness or other behavioral health conditions. The work can be very meaningful, but many PSWs must prepare for, monitor, and manage challenging behaviors, including aggression. This study was designed to estimate the prevalence of aggression experienced by PSWs in Oregon, and compare it to a previous sample of Oregon home care workers (HCWs).

Spine and Non-spine Bone Metastases - Current Controversies and Future Direction.

Bone is a common site of metastases in advanced cancers. The main symptom is pain, which increases morbidity and reduces quality of life. The treatment of bone metastases needs a multidisciplinary approach, with the main aim of relieving pain and improving quality of life.

Hypofractionated Adjuvant Radiation Therapy Is Effective for Patients With Lymph Node-Positive Breast Cancer: A Population-Based Analysis.

Purpose: This study evaluated long-term, population-based, breast cancer-specific outcomes in patients treated with radiation therapy (RT) to the breast/chest wall plus regional nodes using hypofractionated (HF) (40-42.5 Gy/16 fractions) versus conventionally fractionated (CF) regimens (50-50.4 Gy/25-28 fractions).

Using an item-specific predictor to test the dimensionality of the orthographic choice task.

The orthographic choice (OC) task-requiring individuals to choose the correct spelling between a word and a pseudohomophone foil (e.g., goat vs.

Acute aerobic exercise increases respiratory sinus arrythmia reactivity and recovery to a sad film among individuals at risk for depression.

Cardiac vagal control (CVC), as indexed by abnormalities in resting, reactivity, and recovery levels of respiratory sinus arrythmia (RSA), has been proposed as an index of impaired self-regulatory capacity in depression. Aerobic exercise has been shown to improve positive and negative affective responses and influence autonomic function; however, it is unknown whether exercise impacts RSA reactivity and subsequent recovery to emotional challenges among individuals at risk for depression. The present study aimed to determine the effects of moderate-intensity aerobic exercise on RSA reactivity and recovery to a sad film.

Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.

Genetic testing for cardiac disorders continues to change. Our objective was to assess trends in variant classification in pediatric arrhythmia and cardiomyopathy. We conducted a retrospective review of patients tested for genetic arrhythmia and cardiomyopathy disorders from 2006-2017.

Seasons of .

is a widespread and important marine primary producer. Time series provide critical information for identifying and understanding the factors that determine abundance patterns. Here, we present the results of analysis of a 16-yr hourly time series of at the Martha's Vineyard Coastal Observatory, obtained with an automated, in situ flow cytometer.

Does Experiencing an Injury Claim Impact Small Construction Company Leaders' Participation in a Fall Protection Survey?

Objectives: Workers in small and medium residential construction companies (≤50 employees) have a high risk of fall-related fatality or disability. However, little is known about effective ways to engage with this subsector for research and training. We tested whether insurance-documented fall-related claims during the past 12 months and lower familiarity with equipment motivated companies' representatives to engage with a fall protection survey.

Online Conversation Monitoring to Understand the Opioid Epidemic: Epidemiological Surveillance Study.

Background: Between 2016 and 2017, the national mortality rate involving opioids continued its escalation; opioid deaths rose from 42,249 to 47,600, bringing the public health crisis to a new height. Considering that 69% of adults in the United States use online social media sites, a resource that builds a more complete understanding of prescription drug misuse and abuse could supplement traditional surveillance instruments. The Food and Drug Administration has identified 5 key risks and consequences of opioid drugs-misuse, abuse, addiction, overdose, and death.

Advanced Radiation Therapy Technology Use in the Treatment of Bone Metastases in a Public, Salary-Funded, Non-Incentivized Health Care System.

Purpose: There is limited evidence to support the routine use of conformal radiotherapy (RT) techniques in the treatment of bone metastases. This study evaluated trends in advanced technique use within the province of British Columbia.

Materials And Methods: Data on patients who received RT for bone metastases between 2009 and 2016 (with the exception of 2012) at 6 regional cancer centers were reviewed.