GREGoR: Accelerating Genomics for Rare Diseases.

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.

Relation between Deese-Roediger-Mcdermott recall measures of false memory and the fading affect bias.

The fading affect bias (FAB) is the faster fading of unpleasant affect than pleasant affect for autobiographical event memories, and it is considered a healthy coping mechanism because it is positively related to healthy measures (e.g., self-esteem and positive PANAS), whereas it is negatively related to unhealthy measures (e.

Identification of novel biomarkers of acute phase response in chickens challenged with Escherichia coli lipopolysaccharide endotoxin.

Background: The chicken's inflammatory response is an essential part of the bird's response to infection. A single dose of Escherichia coli (E. coli) lipopolysaccharide (LPS) endotoxin can activate the acute phase response (APR) and lead to the production of acute phase proteins (APPs).

High-Performance Dopamine-Based Supramolecular Bio-Adhesives.

The need for wound closure or surgical procedures has been commonly met by the application of sutures. Unfortunately, these are often invasive or subject to contamination. Alternative solutions are offered by surgical adhesives that can be applied and set without major disruption; a new class of supramolecular-based adhesives provides potential solutions to some of these challenges.

Characteristics of pain and their relationship to disease activity in UK patients with Behçet's syndrome: a prospective cohort study.

Background: Behçet's syndrome (BS) is a rare multi-systemic vasculitis of unknown aetiology. Fibromyalgia syndrome (FMS) is more prevalent in rheumatological conditions such-as BS, than the general population. However, there is limited research into the aetiology and characteristics of pain in BS.

The Relationship Between Parental and Family Functioning and Post-Concussive Symptoms After Pediatric Mild Traumatic Brain Injury: A Scoping Review.

This scoping review aimed to address the following questions: (1) Does mild traumatic brain injury (mTBI) result in more parental distress or poorer family functioning than other injuries? (2) Does pre-injury or acute parental distress and family functioning predict post-concussive symptoms (PCS) after mTBI? and (3) Do acute PCS predict later parental distress and family functioning? The subjects of this review were children/adolescents who had sustained an mTBI before age 18 and underwent assessment of PCS and parent or family functioning. MEDLINE, PsycInfo, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Embase, and CENTRAL databases were searched to identify original, empirical, peer-reviewed research published in English. PCS measures included parent- and child-reported symptom counts and continuous scales.

Implementing an Interprofessional Difficult Airway Response Team to Identify and Manage High-Risk Airways.

Objective: To describe a multidisciplinary approach to and results from the creation of a difficult airway response team (DART) to address the management of inpatient loss of airway events.

Methods: Description of an interprofessional process to establish and sustain a DART program at a tertiary care hospital. An Institutional Review Board-approved retrospective review of the quantitative results was conducted from November 2019 through March 2021.

A Prospective Cohort Study of the Association Between Preinjury Psychosocial Function and Postconcussive Symptoms in Pediatric Mild Traumatic Brain Injury: An A-CAP Study.

Objective: We evaluated the moderating effect of preinjury psychosocial function on postconcussion symptoms for children with mild traumatic brain injury (mTBI).

Design, Setting, And Population: We conducted a prospective cohort study of children ages 8.0 to 16.

Are Home Evictions Associated with Child Welfare System Involvement? Empirical Evidence from National Eviction Records and Child Protective Services Data.

This study aimed to understand the relationship between home eviction and child welfare system involvement at the county level. Using administrative data, we examined associations of home eviction and eviction filing rates with child abuse and neglect (CAN) reports and foster care entries. We found one additional eviction per 100 renter-occupied homes in a county was associated with a 1.

Totally endoscopic cartilage tympanoplasty: a hierarchical task analysis.

Background: Totally endoscopic ear surgery is a novel method of conducting otological surgery. Hierarchical task analysis and the systematic human error reduction and prediction approach ('SHERPA') are valuable tools that can effectively deconstruct the technical and non-technical skills required to successfully complete a surgical procedure.

Methods: Twenty-five endoscopic tragal cartilage tympanoplasties were observed, to identify the tasks and subtasks required for completion of totally endoscopic tragal cartilage tympanoplasty.

Adult Cognitive Outcomes Following Childhood Mild Traumatic Brain Injury: A Scoping Review.

Objective: This review aimed to (1) summarize the existing literature regarding cognitive outcomes in adults with a history of pediatric mild traumatic brain injury (mTBI) and (2) identify gaps in the literature to provide directions for future research.

Participants: Participants sustained mTBI in childhood (0-17 years of age) and underwent cognitive assessment in adulthood (older than 18 years) at least 1 year postinjury.

Design: MEDLINE Ovid and PsycINFO Ovid databases were searched to identify original research studies that examined adult cognitive outcomes after childhood mTBI.

Classification Criteria and Rates of Persistent Postconcussive Symptoms in Children: A Systematic Review and Meta-Analysis.

Objective: To provide a systematic review of studies examining the proportion of children with persistent postconcussive symptoms (PPCS) and to examine potential moderators of prevalence.

Study Design: Searches were conducted in MEDLINE, Embase, PsycINFO, Scopus, and Cochrane Central Register of Controlled Trials on April 16, 2020. Criteria for study inclusion were children aged <18 years with concussion or mild traumatic brain injury, operational definition of PPCS, assessment of postconcussive symptoms at least 4 weeks postinjury, sample sizes and proportion with PPCS available, and study published in English.

Centers for Mendelian Genomics: A decade of facilitating gene discovery.

Purpose: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.

Methods: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.

Do motives matter? Short- and long-term motives as predictors of emotion regulation in everyday life.

The ability to consider the future is critical to many human behaviors. Individuals who consider future outcomes of their actions are more likely to report using emotion regulation strategies that have enduring effects on feelings. However, there has been little examination of how variation in short- and long-term motives across events predicts emotion regulation strategy use.

Cognitive Outcomes in Children with Mild Traumatic Brain Injury: An Examination Using the National Institutes of Health Toolbox Cognition Battery.

This study is the first to examine cognitive outcomes after pediatric mild TBI using the National Institutes of Health Toolbox Cognition Battery (NIHTB-CB), a computerized cognitive test battery. The NIHTB-CB includes two complex measures of attention and executive function that allow differentiation of accuracy and response speed. We compared performance on the NIHTB-CB among children 8-16 years of age with mild TBI ( = 143) versus children with orthopedic injuries (OIs;  = 74) recruited in emergency departments and followed for 6 months post-injury.

Cervical screening uptake and rates of cervical dysplasia in the British Society for Rheumatology Biologics Register for Rheumatoid Arthritis.

Objectives: To compare cervical screening attendance and cytology (high- and low-grade cervical dysplasia [HGCD and LGCD]) between women with RA and the English general population and between biologic DMARD (bDMARD)-naïve and exposed women.

Methods: The British Society for Rheumatology Biologics Register for RA (BSRBR-RA), a national prospective study of RA treatment outcomes, was linked to the National Health Service Cervical Screening Programme, providing data for 12 785 women to compare with national screening data. Rates of HGCD/LGCD were compared with rates of negative smears using risk difference calculations between BSRBR-RA and national statistics.

The NIH Common Fund/Roadmap Epigenomics Program: Successes of a comprehensive consortium.

The NIH Roadmap Epigenomics Program was launched to deliver reference epigenomic data from human tissues and cells, develop tools and methods for analyzing the epigenome, discover novel epigenetic marks, develop methods to manipulate the epigenome, and determine epigenetic contributions to diverse human diseases. Here, we comment on the outcomes from this program: the scientific contributions made possible by a consortium approach and the challenges, benefits, and lessons learned from this group science effort.

Ultrasound characteristics of feline urinary bladder transitional cell carcinoma are similar to canine urinary bladder transitional cell carcinoma.

Feline transitional cell carcinoma (TCC) is a rare neoplasia of cats with an estimated prevalence of 0.18%. Cats with TCC share clinical signs with common pathologies like feline idiopathic cystitis or urinary tract infections.

The Multiple Biological Targets of Hops and Bioactive Compounds.

Botanical dietary supplements for women's health are increasingly popular. Older women tend to take botanical supplements such as hops as natural alternatives to traditional hormone therapy to relieve menopausal symptoms. Especially extracts from spent hops, the plant material remaining after beer brewing, are enriched in bioactive prenylated flavonoids that correlate with the health benefits of the plant.

Lasing Supraparticles Self-Assembled from Nanocrystals.

One of the most attractive commercial applications of semiconductor nanocrystals (NCs) is their use in lasers. Thanks to their high quantum yield, tunable optical properties, photostability, and wet-chemical processability, NCs have arisen as promising gain materials. Most of these applications, however, rely on incorporation of NCs in lasing cavities separately produced using sophisticated fabrication methods and often difficult to manipulate.

Review of Biosimilar Trials and Data on Etanercept in Rheumatoid Arthritis.

Purpose Of Review: Etanercept was the first tumour necrosis factor inhibitor approved to treat rheumatoid arthritis (RA) in the United States (US) and Europe. The recent patent expiration of the etanercept originator ENBREL in Europe has facilitated the development of biosimilar products, creating the prospect of reduced treatment costs. In this article, we review the original trials for etanercept in RA to facilitate critical appraisal of biosimilar trial data.