Celebrating 1 Year of ATS Scholar. Looking Back and Envisioning the Road Ahead.
Ontology highlight
ABSTRACT:
SUBMITTER: Burkart KM
PROVIDER: S-EPMC8043282 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:It has been 50 years since the first newborn screening (NBS) test for galactosemia was conducted in Oregon, and almost 10 years since the last US state added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these infants were spared the trauma of acute disease by early diagnosis and intervention, and many are alive today because of NBS. Newborn screening for galactosemia is a success story, but not yet a story with a completely happy ending. NBS, follow-up testing, and intervention for galactosemia continue to present challenges that highlight gaps in our knowledge. Here we compare galactosemia screening and follow-up data from 39 NBS programs gathered from the states directly or from public sources. On some matters the programs agreed: for example, those providing relevant data all identify classic galactosemia in close to 1/50,000 newborns and recommend immediate and lifelong dietary restriction of galactose for those infants. On other matters the programs disagree. For example, Duarte galactosemia (DG) detection rates vary dramatically among states, largely reflecting differences in screening approach. For infants diagnosed with DG, >80% of the programs surveyed recommend complete or partial dietary galactose restriction for the first year of life, or give mixed recommendations; <20% recommend no intervention. This disparity presents an ongoing dilemma for families and healthcare providers that could and should be resolved.
| S-EPMC4413015 | biostudies-literature
Project description:Denitrification plays a critical role in regulating ecosystem nutrient availability and anthropogenic reactive nitrogen (N) production. Its importance has inspired an increasing number of studies, yet it remains the most poorly constrained term in terrestrial ecosystem N budgets. We censused the peer-reviewed soil denitrification literature (1975-2015) to identify opportunities for future studies to advance our understanding despite the inherent challenges in studying the process. We found that only one-third of studies reported estimates of both nitrous oxide (N2 O) and dinitrogen (N2 ) production fluxes, often the dominant end products of denitrification, while the majority of studies reported only net N2 O fluxes or denitrification potential. Of the 236 studies that measured complete denitrification to N2 , 49% used the acetylene inhibition method, 84% were conducted in the laboratory, 81% were performed on surface soils (0-20 cm depth), 75% were located in North America and Europe, and 78% performed treatment manipulations, mostly of N, carbon, or water. To improve understanding of soil denitrification, we recommend broadening access to technologies for new methodologies to measure soil N2 production rates, conducting more studies in the tropics and on subsoils, performing standardized experiments on unmanipulated soils, and using more precise terminology to refer to measured process rates (e.g., net N2 O flux or denitrification potential). To overcome the greater challenges in studying soil denitrification, we envision coordinated research efforts based on standard reporting of metadata for all soil denitrification studies, standard protocols for studies contributing to a Global Denitrification Research Network, and a global consortium of denitrification researchers to facilitate sharing ideas, resources, and to provide mentorship for researchers new to the field.
| S-EPMC6940507 | biostudies-literature
Project description: Not available
| S-EPMC8015773 | biostudies-literature
Project description:Despite the recent success of antiretrovirals for HIV prevention, additional, more effective, or more acceptable biomedical interventions will ultimately be needed to end the HIV epidemic. Designing clinical trials to evaluate the efficacy of new products that reduce HIV infection risk is challenging because of the existence of highly effective interventions to prevent HIV. However, the implementation of these interventions is uneven, and the fact that multiple HIV prevention efficacy trials are currently evaluating new products means the field confronts uncertainty in the emerging standard of prevention. In this Viewpoint, we take stock of the current state of HIV prevention, and subsequently discuss the key challenges in designing future trials to evaluate the next generation of HIV prevention products. We also highlight gaps in the knowledge base that need to be addressed to advance the design of research. Future trials are tenable, even in the context of existing and effective interventions, and should involve careful statistical approaches and multidisciplinary collaborative design.
| S-EPMC6612578 | biostudies-literature
Project description:PurposeCompared with same-age typically developing peers, school-age children with specific language impairment (SLI) exhibit significant deficits in spoken sentence comprehension. They also demonstrate a range of memory limitations. Whether these 2 deficit areas are related is unclear. The present review article aims to (a) review 2 main theoretical accounts of SLI sentence comprehension and various studies supporting each and (b) offer a new, broader, more integrated memory-based framework to guide future SLI research, as we believe the available evidence favors a memory-based perspective of SLI comprehension limitations.MethodWe reviewed the literature on the sentence comprehension abilities of English-speaking children with SLI from 2 theoretical perspectives.ResultsThe sentence comprehension limitations of children with SLI appear to be more fully captured by a memory-based perspective than by a syntax-specific deficit perspective.ConclusionsAlthough a memory-based view appears to be the better account of SLI sentence comprehension deficits, this view requires refinement and expansion. Current memory-based perspectives of adult sentence comprehension, with proper modification, offer SLI investigators new, more integrated memory frameworks within which to study and better understand the sentence comprehension abilities of children with SLI.
| S-EPMC5399765 | biostudies-literature
Project description:We outline the key questions about comets that must be answered in order to understand cometary formation in the context of the protoplanetary disc and the role of comets in the formation and evolution of the solar system. We then discuss the new understanding of comets from Rosetta and from other recent advances, including work presented by others at the discussion meeting. Finally, we suggest some key directions for future projects to better address the above questions.This article is part of the themed issue 'Cometary science after Rosetta'.
| S-EPMC5454229 | biostudies-literature
Project description: Not available
| S-EPMC8043291 | biostudies-literature
Project description:Treatment options as well as the characteristics for therapeutic decisions in patients with primary and advanced breast cancer are increasing in number and variety. New targeted therapies in combination with established chemotherapy schemes are broadening the spectrum, yet not every new, promising combination achieves a better result. New data from the field of pharmacogenomics point to prognostic and predictive factors that take not only the properties of the tumour but also the genetic disposition of the patient into consideration. Current therapeutic decision-making is thus based on a combination of classical clinical and modern molecular biomarkers. Health-economic concerns are also being taken into consideration more frequently, meaning political decisions may also become a factor. This review presents the trends over the past year.
| S-EPMC4651151 | biostudies-literature
Project description:GigaScience is now 5 years old, having been launched at the 2012 Intelligent Systems for Molecular Biology conference. Anyone who has attended what is the largest computational biology conference since then has had the opportunity to join us for each birthday celebration-and receive 1 of our fun T-shirts as a party prize. Since launching, we have pushed our agenda of openness, transparency, reproducibility, and reusability. Here, we look back at our first 5 years and what we have done to forward our open science goals in scientific publishing. Our mainstay has been to create a process that allows the availability and publication of as many "research objects" as possible to create a more complete way of communicating how the research process is done.
| S-EPMC5603759 | biostudies-literature
Project description:A great deal of excitement and hope has followed the successful trials and US Food and Drug Administration approval of the drug ivacaftor (Kalydeco), the first therapy available that targets the underlying defect that causes cystic fibrosis (CF). Although this drug has currently demonstrated a clinical benefit for a small minority of the CF population, the developmental pathway established by ivacaftor paves the way for other CF transmembrane conductance regulator (CFTR) modulators that may benefit many more patients. In addition to investigating CFTR modulators, researchers are actively developing numerous other innovative CF therapies. In this review, we use the catalog of treatments currently under evaluation with the support of the Cystic Fibrosis Foundation, known as the Cystic Fibrosis Foundation Therapeutics Pipeline, as a platform to discuss the variety of candidate treatments for CF lung disease that promise to improve CF care. Many of these approaches target the individual components of the relentless cycle of airway obstruction, inflammation, and infection characteristic of lung disease in CF, whereas others are aimed directly at the gene defect, or the resulting dysfunctional protein, that instigates this cycle. We discuss how new findings from the laboratory have informed not only the development of novel therapeutics, but also the rationales for their use and the outcomes used to measure their effects. By reviewing the breadth of candidate treatments currently in development, as well as the recent progress in CF therapies reflected by the evolution of the therapeutics pipeline over the past few years, we hope to build upon the optimism and anticipation generated by the recent success of Kalydeco.
| S-EPMC3610617 | biostudies-other