‘Everyone thought I was a very very bad person… no one want to know you like the nurses and doctors’:using focus groups to elicit the views of adults with learning disability who use challenging behaviour services

and Tables S1–S3. (PDF 3090 kb

An epigenetic clock for gestational age at birth based on blood methylation data

Background: Gestational age is often used as a proxy for developmental maturity by clinicians and researchers alike. DNA methylation has previously been shown to be associated with age and has been used to accurately estimate chronological age in children and adults. In the current study, we examine whether DNA methylation in cord blood can be used to estimate gestational age at birth. Results: We find that gestational age can be accurately estimated from DNA methylation of neonatal cord blood and blood spot samples. We calculate a DNA methylation gestational age using 148 CpG sites selected through elastic net regression in six training datasets. We evaluate predictive accuracy in nine testing datasets and find that the accuracy of the DNA methylation gestational age is consistent with that of gestational age estimates based on established methods, such as ultrasound. We also find that an increased DNA methylation gestational age relative to clinical gestational age is associated with birthweight independent of gestational age, sex, and ancestry. Conclusions: DNA methylation can be used to accurately estimate gestational age at or near birth and may provide additional information relevant to developmental stage. Further studies of this predictor are warranted to determine its utility in clinical settings and for research purposes. When clinical estimates are available this measure may increase accuracy in the testing of hypotheses related to developmental age and other early life circumstances.Peer reviewe

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Quantum Leap from Gold and Silver to Aluminum Nanoplasmonics for Enhanced Biomedical Applications

Nanotechnology has been used in many biosensing and medical applications, in the form of noble metal (gold and silver) nanoparticles and nanostructured substrates. However, the translational clinical and industrial applications still need improvements of the efficiency, selectivity, cost, toxicity, reproducibility, and morphological control at the nanoscale level. In this review, we highlight the recent progress that has been made in the replacement of expensive gold and silver metals with the less expensive aluminum. In addition to low cost, other advantages of the aluminum plasmonic nanostructures include a broad spectral range from deep UV to near IR, providing additional signal enhancement and treatment mechanisms. New synergistic treatments of bacterial infections, cancer, and coronaviruses are envisioned. Coupling with gain media and quantum optical effects improve the performance of the aluminum nanostructures beyond gold and silver

Novice Physician Ultrasound Evaluation of Pediatric Tricuspid Regurgitant Jet Velocity

Introduction: Pulmonary hypertension, associated with high mortality in pediatric patients, is traditionally screened for by trained professionals by measuring a tricuspid regurgitant jet velocity (TRJV). Our objective was to test the feasibility of novice physician sonographers (NPS) to perform echocardiograms of adequate quality to exclude pathology (defined as TRJV &gt; 2.5 meters per second).Methods: We conducted a cross-sectional study of NPS to assess TRJV by echocardiogram in an urban pediatric emergency department. NPS completed an educational course consisting of a didactic curriculum and hands-on workshop. NPS enrolled a convenience sample of patients aged 7-21 years. Our primary outcome was the proportion of echocardiograms with images of adequate quality to exclude pathology. Our secondary outcome was NPS performance on four image elements. We present descriptive statistics, binomial proportions, kappa coefficients, and logistic regression analysis.Results: Eight NPS completed 80 echocardiograms. We found 82.5% (95% confidence interval [CI], 74.2-90.8) of echocardiograms had images of adequate quality to exclude pathology. Among image elements, NPS obtained a satisfactory, apical 4-chamber view in 85% (95% CI, 77.1-92.9); positioned the color box accurately 65% (95% CI, 54.5-75.5); optimized TRJV color signal 78.7% (95% CI, 69.8-87.7); and optimized continuous-wave Doppler in 55% (95% CI, 44.1-66.0) of echocardiograms.Conclusion: NPS obtained images of adequate quality to exclude pathology in a majority of studies; however, optimized acquisition of specific image elements varied. This work establishes the basis for future study of NPS assessment of TRJV pathology when elevated pulmonary pressures are of clinical concern

Novice Physician Ultrasound Evaluation of Pediatric Tricuspid Regurgitant Jet Velocity

Introduction: Pulmonary hypertension, associated with high mortality in pediatric patients, is traditionally screened for by trained professionals by measuring a tricuspid regurgitant jet velocity (TRJV). Our objective was to test the feasibility of novice physician sonographers (NPS) to perform echocardiograms of adequate quality to exclude pathology (defined as TRJV &gt; 2.5 meters per second).Methods: We conducted a cross-sectional study of NPS to assess TRJV by echocardiogram in an urban pediatric emergency department. NPS completed an educational course consisting of a didactic curriculum and hands-on workshop. NPS enrolled a convenience sample of patients aged 7-21 years. Our primary outcome was the proportion of echocardiograms with images of adequate quality to exclude pathology. Our secondary outcome was NPS performance on four image elements. We present descriptive statistics, binomial proportions, kappa coefficients, and logistic regression analysis.Results: Eight NPS completed 80 echocardiograms. We found 82.5% (95% confidence interval [CI], 74.2-90.8) of echocardiograms had images of adequate quality to exclude pathology. Among image elements, NPS obtained a satisfactory, apical 4-chamber view in 85% (95% CI, 77.1-92.9); positioned the color box accurately 65% (95% CI, 54.5-75.5); optimized TRJV color signal 78.7% (95% CI, 69.8-87.7); and optimized continuous-wave Doppler in 55% (95% CI, 44.1-66.0) of echocardiograms.Conclusion: NPS obtained images of adequate quality to exclude pathology in a majority of studies; however, optimized acquisition of specific image elements varied. This work establishes the basis for future study of NPS assessment of TRJV pathology when elevated pulmonary pressures are of clinical concern

Face-off Droop: A Case Report of Pediatric Stroke

Introduction: Cerebrovascular accidents rarely occur in children; the incidence of ischemic stroke in patients &lt;16 years of age is between 0.6–7.9/100,000. However, they are the fourth most common cause of acute neurological deficits in the pediatric population, and possible cases should be evaluated with a high index of suspicion to ensure timely intervention. Case Report: We describe a previously healthy 17-year-old male who presented to the pediatric emergency department with a left facial droop and hemiparesis consistent with a stroke. The patient’s age and lack of comorbidities made this an extremely uncommon presentation. Our patient’s neurologic symptoms were believed to have been caused by a recent traumatic clavicular injury sustained two weeks prior, which subsequently led to vascular insult. Conclusion: Cerebrovascular accidents are an important cause of morbidity and mortality in pediatric patients. Cerebrovascular accidents in children are most often secondary to congenital causes; however, care should be taken to assess for acquired causes, such as trauma to major blood vessels. While rarely implicated in traumatic injuries, arterial structures posterior to the medial clavicle can result in severe complications