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

Markers of inflammation and myofibrillar proteins following eccentric exercise in humans

Analyse du temps de course et des relations entre les neutrophiles technetium 99m musculaires, les interleukines 6, les fragments de myosine à chaîne lourde et une courbature musculair

Markers of inflammation and myofibrillar proteins following eccentric exercise in humans

Analyse du temps de course et des relations entre les neutrophiles technetium 99m musculaires, les interleukines 6, les fragments de myosine à chaîne lourde et une courbature musculair

Falls in people with chronic obstructive pulmonary disease: An observational cohort study

SummaryStudy objectiveTo investigate incidence, risk factors and impact of falls on health related quality of life (HRQoL) in patients with chronic obstructive pulmonary disease (COPD).DesignObservational cohort study.MethodsPatients completed these questionnaires at baseline and at 6-months: Medical Outcomes Study Short Form 36 (SF-36), Chronic Respiratory Questionnaire (CRQ), Activities Balance Confidence (ABC) Scale and a form to record demographic data, medications, co-morbidities, oxygen use, acute exacerbations, fall history and assistive device use. Physical activity was measured with the Physical Activity Scale for the Elderly (PASE) only at baseline. Fall incidence was monitored through monthly fall diaries. Patients were categorized as non-fallers (0 falls) or fallers (≥1 falls).ResultsData from 101 patients with a forced expiratory volume in 1 s of 46.4 ± 21.6% predicted were analyzed. Thirty-two patients (31.7%) reported at least one fall during the 6-months. Fall incidence rate was 0.1 (95% CI: 0.06–0.14) falls per person-month. Fallers tended to be older (p = 0.04), female (p = 0.04) and oxygen dependent (p = 0.02), have a history of previous falls (p < 0.001), more co-morbidities (p = 0.007) and take more medications (p = 0.001). Previous falls (OR = 7.36; 95% CI: 2.39–22.69) and diagnosis of coronary heart disease (OR = 7.07; 95% CI: 2.14–23.36) were the most important predictors of falls. The Dyspnea Domain of the CRQ declined significantly more (p = 0.02) in the fallers group at 6-months.ConclusionsPatients with COPD have a high susceptibility to falls, which is associated with a worsening of dyspnea perception as related to HRQoL. Fall prevention programs in COPD are recommended