144 research outputs found
Associations of Genetic Ancestry with Terminal Duct Lobular Unit Involution among Healthy Women
Reduced age-related terminal duct lobular unit (TDLU) involution has been linked to increased breast cancer risk and triple-negative breast cancer. Associations of TDLU involution levels with race and ethnicity remain incompletely explored. Herein, we examined the association between genetic ancestry and TDLU involution in normal breast tissue donated by 2014 healthy women in the United States. Women of African ancestry were more likely than European women to have increased TDLU counts (odds ratio [OR](trend)â=â1.36, 95% confidence interval [CI]â=â1.07 to 1.74), acini counts per TDLU (ORâ=â1.47, 95% CIâ=â1.06 to 2.03), and median TDLU span (OR(trend)â=â1.44, 95% CIâ=â1.08 to 1.91), indicating lower involution, whereas East Asian descendants were associated with decreased TDLU counts (OR(trend)â=â0.52, 95% CIâ=â0.35 to 0.78) after controlling for potential confounders. These associations are consistent with the racial variations in incidence rates of triple-negative breast cancer in the United States and suggest opportunities for future work examining whether TDLU involution may mediate the racial differences in subtype-specific breast cancer risk
The relationship between U.S. east coast sea level and the Atlantic meridional overturning circulation: A review
Scientific and societal interest in the relationship between the Atlantic Meridional Overturning Circulation (AMOC) and U.S. East Coast sea level has intensified over the past decade, largely due to (1) projected, and potentially ongoing, enhancement of sea level rise associated with AMOC weakening and (2) the potential for observations of U.S. East Coast sea level to inform reconstructions of North Atlantic circulation and climate. These implications have inspired a wealth of modelâ and observationâbased analyses. Here, we review this research, finding consistent support in numerical models for an antiphase relationship between AMOC strength and dynamic sea level. However, simulations exhibit substantial alongâcoast and intermodel differences in the amplitude of AMOCâassociated dynamic sea level variability. Observational analyses focusing on shorter (generally less than decadal) timescales show robust relationships between some components of the North Atlantic largeâscale circulation and coastal sea level variability, but the causal relationships between different observational metrics, AMOC, and sea level are often unclear. We highlight the importance of existing and future research seeking to understand relationships between AMOC and its component currents, the role of ageostrophic processes near the coast, and the interplay of local and remote forcing. Such research will help reconcile the results of different numerical simulations with each other and with observations, inform the physical origins of covariability, and reveal the sensitivity of scaling relationships to forcing, timescale, and model representation. This information will, in turn, provide a more complete characterization of uncertainty in relevant relationships, leading to more robust reconstructions and projections
Climate-Biogeochemistry Interactions in the Tropical Ocean: Data collection and legacy
From 2008 through 2019, a comprehensive research project, SFB 754, Climate - Biogeochemistry Interactions in the Tropical Ocean, was funded by the German Research Foundation to investigate the climate-biogeochemistry interactions in the tropical ocean with a particular emphasis on the processes determining the oxygen distribution. During three 4-year long funding phases, a consortium of more than 150 scientists conducted or participated in 34 major research cruises and collected a wealth of physical, biological, chemical, and meteorological data. A common data policy agreed upon at the initiation of the project provided the basis for the open publication of all data. Here we provide an inventory of this unique data set and briefly summarize the various data acquisition and processing methods used
Utjecaj uvjeta uzgoja i dodatka soli na sastav eteriÄnog ulja slatkog maĆŸurana (Origanum majorana) iz Tunisa
O. majorana shoots were investigated for their essential oil (EO) composition. Two experiments were carried out; the first on hydroponic medium in a culture chamber and the second on inert sand in a greenhouse for 20 days. Plants were cultivated for 17 days in hydroponic medium supplemented with NaCl 100 mmol L1. The results showed that the O. majorana hydroponic medium offered higher essential oil yield than that from the greenhouse. The latter increased significantly in yield (by 50 %) under saline constraint while it did not change in the culture chamber. Under greenhouse conditions and in the absence of salt treatment, the major constituents were terpinene-4-ol and trans-sabinene hydrate. However, in the culture chamber, the major volatile components were cis-sabinene hydrate and terpinene-4-ol. In the presence of NaCl, new compounds appeared, such as eicosane, spathulenol, eugenol, and phenol. In addition, in the greenhouse, with or without salt, a very important change of trans-sabinene hydrate concentration in EO occurred, whereas in the culture chamber change appeared in cis-sabinene hydrate content.U radu je opisano ispitivanje sastava eteriÄnog ulja izdanaka biljke O. majorana. Provedena su dva eksperimenta: prvi na hidroponom mediju u komorama za uzgoj, a drugi na inertnom pijesku u stakleniku tijekom 20 dana. Biljke su uzgajane 17 dana u hidroponom mediju u koji je dodan NaCl 100 mmol L1. Rezultati ukazuju na to da hidroponi medij O. majorana osigurava veÄe prinose eteriÄnog ulja nego staklenik. U stakleniku se prinos ulja znaÄajno poveÄao dodavanjem 50 % soli dok u uzgoju u uzgojnoj komori nije bilo promjene. U uvjetima u stakleniku i u odsutnosti soli, najvaĆŸniji sastojci ulja bili su terpinen-4-ol i trans-sabinen hidrat, dok su u uvjetima uzgojne komore najvaĆŸnije hlapljive komponente bile cis-sabinen hidrat i terpinen-4-ol. U prisutnosti NaCl-a, pojavili su se novi sastojci, kao ĆĄto su eikozan, spatulenol, eugenol i fenol. Dodatno je uz stakleniÄke uvjete, sa i bez soli, doĆĄlo do vaĆŸne promjene u koliÄini trans-sabinen hidrata u eteriÄnom ulju, dok se u komorama promijenio sadrĆŸaj cis-sabinen hidrata
Ramadan fasting does not adversely affect neuromuscular performances and reaction times in trained karate athletes
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance.
RESULTS:
A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization.
CONCLUSIONS:
The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups
A year of genomic surveillance reveals how the SARS-CoV-2 pandemic unfolded in Africa.
The progression of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic in Africa has so far been heterogeneous, and the full impact is not yet well understood. In this study, we describe the genomic epidemiology using a dataset of 8746 genomes from 33 African countries and two overseas territories. We show that the epidemics in most countries were initiated by importations predominantly from Europe, which diminished after the early introduction of international travel restrictions. As the pandemic progressed, ongoing transmission in many countries and increasing mobility led to the emergence and spread within the continent of many variants of concern and interest, such as B.1.351, B.1.525, A.23.1, and C.1.1. Although distorted by low sampling numbers and blind spots, the findings highlight that Africa must not be left behind in the global pandemic response, otherwise it could become a source for new variants
The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance.
Investment in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing in Africa over the past year has led to a major increase in the number of sequences that have been generated and used to track the pandemic on the continent, a number that now exceeds 100,000 genomes. Our results show an increase in the number of African countries that are able to sequence domestically and highlight that local sequencing enables faster turnaround times and more-regular routine surveillance. Despite limitations of low testing proportions, findings from this genomic surveillance study underscore the heterogeneous nature of the pandemic and illuminate the distinct dispersal dynamics of variants of concern-particularly Alpha, Beta, Delta, and Omicron-on the continent. Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve while the continent faces many emerging and reemerging infectious disease threats. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century
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