Highlights from the 2016 North American Cystic Fibrosis Conference.
Ontology highlight
ABSTRACT:
SUBMITTER: Zemanick ET
PROVIDER: S-EPMC5963883 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:The 29th Annual North American Cystic Fibrosis Conference was held in Phoenix, Arizona on October 8-10, 2015. Abstracts were published in a supplement to Pediatric Pulmonology.(1) In this review, we summarize presentations in several of the topic areas addressed at the conference. Our goal is to provide an overview of presentations with relevance to emerging or changing concepts in several areas rather than a comprehensive review. Citations from the conference are by first author and abstract number or symposium number, as designated in the supplement. Pediatr Pulmonol. 2016;51:650-657. © 2016 Wiley Periodicals, Inc.
| S-EPMC5935494 | biostudies-literature
Project description:HIV Research for Prevention: AIDS Vaccine, Microbicide, and ARV-based Prevention Science (HIVR4P) was built on a growing consensus that effective HIV prevention requires a combination of approaches and that understanding, analyzing, and debating the cross-cutting issues that impact prevention research are all essential to combat the global HIV/AIDS epidemic. To that end, the biennial HIVR4P conference is dedicated to all biomedical HIV prevention research approaches, including HIV vaccines, microbicides, pre-exposure prophylaxis, and treatment as prevention. The HIVR4P 2016 conference was held in Chicago, Illinois (USA), on October 17-21, and included more than 700 scientific presentations and 21 satellite sessions covering the latest and most promising advances across the HIV prevention research field. The theme "Partnering for Prevention" represented the conference's commitment to breaking down silos between research disciplines as well as between researchers, program developers, care providers, advocates, communities, and funders. Delegates spanning 42 countries attended the conference. One-third of those in attendance were early career investigators, which reflects a firm commitment to emerging researchers and ultimately to the goal of developing a sustainable scientific enterprise well into the future. This article presents a concise summary of highlights from the conference. For a more detailed account, one may find full abstracts, daily summaries, and webcasts on the conference website at hivr4p.org.
| S-EPMC5564036 | biostudies-other
Project description:It is generally presumed that the cystic fibrosis (CF) population is relatively homogeneous, and predominantly of European origin. The complex ethnic make-up observed in the CF patients collected by the North American CF Modifier Gene Consortium has brought this assumption into question, and suggested the potential for population substructure in the three CF study samples collected from North America. It is well appreciated that population substructure can result in spurious genetic associations. To understand the ethnic composition of the North American CF population, and to assess the need for population structure adjustment in genetic association studies with North American CF patients, genome-wide single-nucleotide polymorphisms on 3076 unrelated North American CF patients were used to perform population structure analyses. We compared self-reported ethnicity to genotype-inferred ancestry, and also examined whether geographic distribution and cystic fibrosis transmembrane regulator (CFTR) mutation type could explain the population structure observed. Although largely Caucasian, our analyses identified a considerable number of CF patients with admixed African-Caucasian, Mexican-Caucasian and Indian-Caucasian ancestries. Population substructure was present and comparable across the three studies of the consortium. Neither geographic distribution nor CFTR mutation type explained the population structure. Given the ethnic diversity of the North American CF population, it is essential to carefully detect, estimate and adjust for population substructure to guard against potential spurious findings in CF genetic association studies. Other Mendelian diseases that are presumed to predominantly affect single ethnic groups may also benefit from careful analysis of population structure.
| S-EPMC2995003 | biostudies-literature
Project description:Achromobacter species are increasingly being detected in cystic fibrosis (CF) patients, with an unclear epidemiology and impact. We studied a cohort of patients attending a Canadian adult CF clinic who had positive sputum cultures for Achromobacter species in the period from 1984 to 2013. Infection was categorized as transient or persistent (?50% positive cultures for 1 year). Those with persistent infection were matched 2:1 with age-, sex-, and time-matched controls without a history of Achromobacter infection, and mixed-effects models were used to assess pulmonary exacerbation (PEx) frequency and lung function decline. Isolates from a biobank were retrospectively assessed, identified to the species level by nrdA sequencing, and genotyped using pulsed-field gel electrophoresis (PFGE). Thirty-four patients (11% of those in our clinic), with a median age of 24 years (interquartile range [IQR], 20.3 to 29.8 years), developed Achromobacter infection. Ten patients (29%) developed persistent infection. Persistence did not denote permanence, as most patients ultimately cleared infection, often after years. Patients were more likely to experience PEx at incident isolation than at prior or subsequent visits (odds ratio [OR], 2.7 [95% confidence interval {CI}, 1.2 to 6.7]; P = 0.03). Following persistent infection, there was no difference in annual lung function decline (-1.08% [95% CI, -2.73 to 0.57%] versus -2.74% [95% CI, -4.02 to 1.46%]; P = 0.12) or the odds of PEx (OR, 1.21 [95% CI, 0.45 to 3.28]; P = 0.70). Differential virulence among Achromobacter species was not observed, and no cases of transmission occurred. We demonstrated that incident Achromobacter infection was associated with a greater risk of PEx; however, neither transient nor chronic infection was associated with a worsened long-term prognosis. Large, multicenter studies are needed to clarify the clinical impact, natural history, and transmissibility of Achromobacter.
| S-EPMC5483909 | biostudies-other
Project description:We present historical monthly spatial models of temperature and precipitation generated from the North American dataset version "j" from the National Oceanic and Atmospheric Administration's (NOAA's) National Centres for Environmental Information (NCEI). Monthly values of minimum/maximum temperature and precipitation for 1901-2016 were modelled for continental United States and Canada. Compared to similar spatial models published in 2006 by Natural Resources Canada (NRCAN), the current models show less error. The Root Generalized Cross Validation (RTGCV), a measure of the predictive error of the surfaces akin to a spatially averaged standard predictive error estimate, averaged 0.94?°C for maximum temperature models, 1.3?°C for minimum temperature and 25.2% for total precipitation. Mean prediction errors for the temperature variables were less than 0.01?°C, using all stations. In comparison, precipitation models showed a dry bias (compared to recorded values) of 0.5?mm or 0.7% of the surface mean. Mean absolute predictive errors for all stations were 0.7?°C for maximum temperature, 1.02?°C for minimum temperature, and 13.3?mm (19.3% of the surface mean) for monthly precipitation.
| S-EPMC7683623 | biostudies-literature
Project description:This multi-center study will compare multi-target DNA and quantitative FIT stool-based testing to colonoscopy in individuals with Cystic Fibrosis (CF) undergoing colon cancer screening with colonoscopy. The primary endpoint is detection of any adenomas, including advanced adenomas and colorectal cancer (CRC).
| 2726863 | ecrin-mdr-crc
Project description:A fundamental challenge in the post-genome era is to understand and annotate the consequences of genetic variation, particularly within the context of human tissues. We describe a set of integrated experiments designed to investigate the effects of common genetic variability on DNA methylation and mRNA expression distinct human brain regions. We show that brain tissues may be readily distinguished based on methylation status or expression profile. We find an abundance of genetic cis regulation mRNA expression and show for the first time abundant quantitative trait loci for DNA CpG methylation. We observe that the largest magnitude effects occur across distinct brain regions. We believe these data, which we have made publicly available, will be useful in understanding the biological effects of genetic variation. Authorized Access data: Mapping of GEO sample accessions to dbGaP subject/sample IDs is available through dbGaP Authorized Access, see http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000249
2012-05-09 | GSE36194 | GEO
Project description:Sequencing vole sex chromosomes Raw sequence reads
| PRJNA415618 | ENA
Project description:Fine-scale Population Structure of North American Arabidopsis Reveals Multiple Sources of Introduction from Across Eurasia
| PRJEB42417 | ENA
Project description:OBJECTIVES:Published cost estimates for cystic fibrosis (CF) are based on older data and do not reflect increased use of specialty drugs in recent years. We assessed recent trends in healthcare expenditures for CF patients in the United States (US) with employer-sponsored health insurance. METHODS:The study is a retrospective analysis of claims data for privately insured individuals aged 0-64 years who were continuously enrolled in non-capitated plans for at least 1 calendar year during 2010-2016. Mean annual expenditures during a calendar year were calculated for individuals who met a claims-based CF case definition. Average annual growth rates were calculated through linear regression of the natural logarithm of annual expenditures. RESULTS:The annual CF prevalence was 1.1-1.4 per 10?000 adults and 2.9-3.0 per 10?000 children. Average spending adjusted for inflation nearly doubled from roughly $67?000 per patient in 2010 and 2011 to approximately $131?000 per patient in 2016. Inflation-adjusted spending on outpatient and inpatient care increased by 0.5% and 2.5% per year, respectively, whereas pharmaceutical spending increased by 20.2% per year. Virtually all of the growth in pharmaceutical spending was accounted for by spending on specialty drugs; inflation-adjusted spending on other medications increased by 1.3% per year. The annual growth rate in pharmaceutical spending rose by 33.1% during 2014-2016, the years during which lumacaftor/ivacaftor was introduced. CONCLUSIONS:Per-patient expenditures for privately-insured patients with CF almost doubled during 2010-2016; specialty drugs were largely responsible for this increase, with a major contribution from new, genotype-targeted CFTR modulator medications.
| S-EPMC6688469 | biostudies-literature