Globally, coral bleaching has been responsible for a significant decline in both coral cover and diversity over the past two decades. During the summer of 2010-11, anomalous large-scale ocean warming ...induced unprecedented levels of coral bleaching accompanied by substantial storminess across more than 12° of latitude and 1200 kilometers of coastline in Western Australia (WA).
Extreme La-Niña conditions caused extensive warming of waters and drove considerable storminess and cyclonic activity across WA from October 2010 to May 2011. Satellite-derived sea surface temperature measurements recorded anomalies of up to 5°C above long-term averages. Benthic surveys quantified the extent of bleaching at 10 locations across four regions from tropical to temperate waters. Bleaching was recorded in all locations across regions and ranged between 17% (±5.5) in the temperate Perth region, to 95% (±3.5) in the Exmouth Gulf of the tropical Ningaloo region. Coincident with high levels of bleaching, three cyclones passed in close proximity to study locations around the time of peak temperatures. Follow-up surveys revealed spatial heterogeneity in coral cover change with four of ten locations recording significant loss of coral cover. Relative decreases ranged between 22%-83.9% of total coral cover, with the greatest losses in the Exmouth Gulf.
The anomalous thermal stress of 2010-11 induced mass bleaching of corals along central and southern WA coral reefs. Significant coral bleaching was observed at multiple locations across the tropical-temperate divide spanning more than 1200 km of coastline. Resultant spatially patchy loss of coral cover under widespread and high levels of bleaching and cyclonic activity, suggests a degree of resilience for WA coral communities. However, the spatial extent of bleaching casts some doubt over hypotheses suggesting that future impacts to coral reefs under forecast warming regimes may in part be mitigated by southern thermal refugia.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Whilst the assessment of body composition is routine practice in sport, there remains considerable debate on the best tools available, with the chosen technique often based upon convenience rather ...than understanding the method and its limitations. The aim of this manuscript was threefold: (1) provide an overview of the common methodologies used within sport to measure body composition, specifically hydro-densitometry, air displacement plethysmography, bioelectrical impedance analysis and spectroscopy, ultra-sound, three-dimensional scanning, dual-energy X-ray absorptiometry (DXA) and skinfold thickness; (2) compare the efficacy of what are widely believed to be the most accurate (DXA) and practical (skinfold thickness) assessment tools and (3) provide a framework to help select the most appropriate assessment in applied sports practice including insights from the authors' experiences working in elite sport. Traditionally, skinfold thickness has been the most popular method of body composition but the use of DXA has increased in recent years, with a wide held belief that it is the criterion standard. When bone mineral content needs to be assessed, and/or when it is necessary to take limb-specific estimations of fat and fat-free mass, then DXA appears to be the preferred method, although it is crucial to be aware of the logistical constraints required to produce reliable data, including controlling food intake, prior exercise and hydration status. However, given the need for simplicity and after considering the evidence across all assessment methods, skinfolds appear to be the least affected by day-to-day variability, leading to the conclusion 'come back skinfolds, all is forgiven'.
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to ...these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.
To promote standardized reporting of actionable information from clinical genomic sequencing, in 2013, the American College of Medical Genetics and Genomics (ACMG) published a minimum list of genes to be reported as incidental or secondary findings. The goal was to identify and manage risks for selected highly penetrant genetic disorders through established interventions aimed at preventing or significantly reducing morbidity and mortality. The ACMG subsequently established the Secondary Findings Maintenance Working Group to develop a process for curating and updating the list over time. We describe here the new process for accepting and evaluating nominations for updates to the secondary findings list. We also report outcomes from six nominations received in the initial 15 months after the process was implemented. Applying the new process while upholding the core principles of the original policy statement resulted in the addition of four genes and removal of one gene; one gene did not meet criteria for inclusion. The updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing. We discuss future areas of focus, encourage continued input from the medical community, and call for research on the impact of returning genomic secondary findings.
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number ...variation (CNV) could extend the diagnostic utility of this previously underutilized data by providing clinically important information such as previously unsuspected deletions or duplications. We evaluated ExomeDepth, a free R package, in addition to an aneuploidy prediction method, to detect CNVs in WES data. First, in a blinded pilot study, five out of five genomic alterations were correctly identified from clinical samples with previously defined chromosomal gains or losses, including submicroscopic deletions, duplications, and chromosomal trisomy. We then examined CNV calls among 53 patients participating in the NCGENES research study and undergoing WES, who had existing clinical chromosomal microarray (CMA) data that could be used for validation. For unique CNVs that overlap well with WES coverage regions, sensitivity was 89% for deletions and 65% for duplications. While specificity of the algorithm calls remains a concern, this is less of an issue at high threshold filtering levels. When applied to all 672 patients from the exome sequencing study, ExomeDepth identified eleven diagnostically relevant CNVs ranging in size from a two exon deletion to whole chromosome duplications, as well as numerous other CNVs with varying clinical significance. This opportunistic analysis of WES data yields an additional 1.6% of patients in this study with pathogenic or likely pathogenic CNVs that are clinically relevant to their phenotype as well as clinically relevant secondary findings. Finally, we demonstrate the potential value of copy number analysis in cases where a single heterozygous likely or known pathogenic single nucleotide alteration is identified in a gene associated with an autosomal recessive condition.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The aim of this study was to quantify typical training load and periodisation practices of MMA athletes. MMA competitors (n = 14; age = 22.4 ± 4.4 years; body mass = 71.3 ± 7.7 kg; stature = 171 ±9.9 ...cm) were observed during training for 8 consecutive weeks without intervention. Seven athletes were training for competitive bouts whilst the remaining 7 were not. Daily training duration, intensity (RPE), load (sRPE and segRPE), fatigue (short questionnaire of fatigue) and body region soreness (CR10 scale) were recorded. Using Bayesian analyses (BF10≥3), data demonstrate that training duration (weekly mean range = 3.9-5.3 hours), sRPE (weekly mean range = 1,287-1,791 AU), strain (weekly mean range = 1,143-1,819 AU), monotony (weekly mean range = 0.63-0.83 AU), fatigue (weekly mean range = 16-20 AU) and soreness did not change within or between weeks. Between weeks monotony (2.3 ± 0.7 AU) supported little variance in weekly training load. There were no differences in any variable between participants who competed and those who did not with the except of the final week before the bout, where an abrupt step taper occurred leading to no between group differences in fatigue. Training intensity distribution corresponding to high, moderate and low was 20, 33 and 47%, respectively. Striking drills accounted for the largest portion of weekly training time (20-32%), with MMA sparring the least (2-7%). Only striking sparring and wrestling sparring displayed statistical weekly differences in duration or load. Athletes reported MMA sparring and wrestling sparring as high intensity (RPE≥7), BJJ sparring, striking sparring and wrestling drills as moderate intensity (RPE 5-6), and striking drills and BJJ drills as low intensity (RPE≤4). We conclude that periodisation of training load was largely absent in this cohort of MMA athletes, as is the case within and between weekly microcycles.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Khoury and Evans comment on a national precision medicine cohort. A unique feature of the proposed cohort is whole-genome sequencing of the participants. Adoption of tier 1 applications in the ...proposed million-person cohort could provide a path toward obtaining immediate benefits for thousands of participants and their families. This cohort of a million or more people would be expected to include many thousands of undiagnosed, unrecognized patients with a high risk for breast/ovarian cancer, colorectal cancer, or coronary heart disease, identified through genomic sequencing. If identified and properly educated, these individuals and their relatives could leverage established interventions to reduce their risk--an immediate potential benefit from this endeavor. Just as important, the cohort could inform many critical questions that need to be answered before implementing genomics at the population level.
Application of scanning probe microscopy techniques such as piezoresponse force microscopy (PFM) opens the possibility to re‐visit the ferroelectrics previously studied by the macroscopic electrical ...testing methods and establish a link between their local nanoscale characteristics and integral response. The nanoscale PFM studies and phase field modeling of the static and dynamic behavior of the domain structure in the well‐known ferroelectric material lead germanate, Pb5Ge3O11, are reported. Several unusual phenomena are revealed: 1) domain formation during the paraelectric‐to‐ferroelectric phase transition, which exhibits an atypical cooling rate dependence; 2) unexpected electrically induced formation of the oblate domains due to the preferential domain walls motion in the directions perpendicular to the polar axis, contrary to the typical domain growth behavior observed so far; 3) absence of the bound charges at the 180° head‐to‐head (H–H) and tail‐totail (T–T) domain walls, which typically exhibit a significant charge density in other ferroelectrics due to the polarization discontinuity. This strikingly different behavior is rationalized by the phase field modeling of the dynamics of uncharged H–H and T–T domain walls. The results provide a new insight into the emergent physics of the ferroelectric domain boundaries, revealing unusual properties not exhibited by conventional Ising‐type walls.
Unconventional cooling‐rate dependence of domain formation during phase transition and switching behavior is observed in ferroelectric Pb5Ge3O11 single crystals in the non‐polar surface. Tip‐induced domains grow preferentially in the direction perpendicular to the polar axis compared to conventional wedge‐shaped growth. Analysis and simulation indicate a fully screened nature of the charged domain walls that results in the unconventional behavior.
We must ensure that trials are scientifically, politically, and socially robust, publicly accountable, and widely transparent
Gene drive organisms (GDOs), whose genomes have been genetically ...engineered to spread a desired allele through a population, have the potential to transform the way societies address a wide range of daunting public health and environmental challenges. The development, testing, and release of GDOs, however, are complex and often controversial. A key challenge is to clarify the appropriate roles of developers and others actively engaged in work with GDOs in decision-making processes, and, in particular, how to establish partnerships with relevant authorities and other stakeholders. Several members of the gene drive community previously proposed safeguards for laboratory experiments with GDOs (
1
) that, in the absence of national or international guidelines, were considered essential for responsible laboratory work to proceed. Now, with GDO development advancing in laboratories (
2
–
5
), we envision similar safeguards for the potential next step: ecologically and/or genetically confined field trials to further assess the performance of GDOs. A GDO's propensity to spread necessitates well-developed criteria for field trials to assess its potential impacts (
6
). We, as a multidisciplinary group of GDO developers, ecologists, conservation biologists, and experts in social science, ethics, and policy, outline commitments below that we deem critical for responsible conduct of a field trial and to ensure that these technologies, if they are introduced, serve the public interest.
The ecohydrological separation hypothesis states that transpiration through plants and drainage to streams and groundwater are sourced from separate soil water pools, which possess distinct isotopic ...signatures. Evidence for ecohydrological separation has relied on the globally ubiquitous observation that plant water and draining water are isotopically distinct. We evaluated the ecohydrological separation hypothesis in the Dry Creek Experimental Watershed in the semiarid, snow‐dominated landscape of southwest Idaho, USA. We found that plant water is indeed isotopically distinct from streams and groundwater. However, we were unable to track those waters to subsurface soil waters, nor were we able to relate soil water mobility to isotopic composition. Soil waters of different mobility can be isotopically similar, and isotopic distinction in soil water can occur for reasons not related to mobility. We suggest that isotopic distinction between root‐absorbed and draining waters may not be an appropriate indicator of ecohydrological separation of soil waters, and that hydrologic explanations for such isotopic distinction may not be sufficient.
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