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Aishwarya Arjunan Holly Bellerose Raul Torres Rotem Ben-Shachar Jodi D. Hoffman Brad Angle Robert Nathan Slotnick Brittany N. Simpson Andrea M. Lewis Pilar L. Magoulas Kelly Bontempo Jeanine Schulze Jennifer Tarpinian Jessica A. Bucher Richard Dineen Allison Goetsch Gabriel A. Lazarin Katherine Johansen Taber 《黑龙江环境通报》2020,40(10):1246-1257
Background
Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).Methods
Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene.Results
Upon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four.Conclusion
This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.386.
Kelly Jarod C. Dai Qiang Wang Michael 《Mitigation and Adaptation Strategies for Global Change》2020,25(3):495-495
Mitigation and Adaptation Strategies for Global Change - The article Globally regional life cycle analysis of automotive lithium-ion nickel manganese cobalt batteries written by Jarod C. Kelly,... 相似文献
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Su Sponaugle Kristen D. Walter Kelly L. Denit Joel K. Llopiz Robert K. Cowen 《Marine Biology》2010,157(4):839-849
Atlantic blue marlin (Makaira nigricans) and sailfish (Istiophorus platypterus) larvae were collected from 10 monthly cruises (June–October 2003 and 2004) across the Straits of Florida to test (1) whether
growth differed between the more productive western region near the Florida shelf, and the less productive eastern region
toward the Bahamas, and (2) whether growth was related to prey consumption. Examination of larval sagittal otoliths revealed
that instantaneous growth and daily growth during the first 2–3 weeks of life did not vary significantly between the two regions
for either species. However, recent growth during the last two full days prior to collection was greater in the west for blue
marlin larvae. Recent growth of blue marlin larvae <9 mm SL (primarily zooplanktivorous) was significantly related to prey
composition (faster growth when higher proportions of Farranula copepods were consumed). Western larvae grew faster and had higher proportions of Farranula in their guts. Trends for sailfish larvae were not significant. In both species, comparison of early growth between <9 and ≥9 mm
SL size groups indicated that growth trajectories diverged around 5–8 mm SL, the time when billfish larvae become capable
of piscivory. Significantly faster growth of larger (older) larvae suggests that mortality was selective for fast growers
and that the transition to piscivory may be a critical point in the early life of billfish. 相似文献
389.
The gastropods Lepetodrilus fucensis and Depressigyra globulus are abundant faunal components of animal communities at deep-sea hydrothermal vents along the Juan de Fuca Ridge in the NE
Pacific. The population structure and recruitment pattern of both species were studied using modal decomposition of length–frequency
distributions. Gastropod populations were collected from Axial Volcano and Endeavour Segment in 2002 and 2003. Polymodal size–frequency
distributions, particularly at Axial Volcano vent sites, suggest a discontinuous recruitment pattern for D. globulus. In contrast, there were no distinct peaks visible in the distributions of L. fucensis, suggesting a continuous recruitment pattern for this species. For both species, distributions were positively skewed towards
the smaller length–classes, implying post-settlement mortality is high. However, variations in growth, due to short- and long-term
variability in environmental conditions in the hydrothermal vent habitat, as well as biological interactions, may also be
influencing the distribution and abundance of subsequent life-history stages. Using maximum shell lengths from populations
of known ages, the growth rate of L. fucensis was estimated as 9.6 μm day−1, indicating adulthood would be reached in ∼1 year. Our results suggest that, despite occupying the same habitat, abundance
and population structure are regulated by different biotic and abiotic processes in L. fucensis and D. globulus. 相似文献
390.
Julie K. Desjardins Kelly A. Stiver John L. Fitzpatrick Nicole Milligan Glen J. Van Der Kraak Sigal Balshine 《Behavioral ecology and sociobiology》2008,62(5):785-794
Among taxonomically widespread cooperatively breeding vertebrates, those with non-breeding helpers-at-the-nest provide an
excellent opportunity to understand the proximate mechanisms underlying care and allocare. In this study, we examined androgen
levels in relation to care behavior in a cooperatively breeding cichlid fish, Neolamprologus pulcher, from Lake Tanganyika. We concentrated on androgens, as these hormones have been linked to the defense behavior, and the
defense of young is a common form of parental care in fishes. N. pulcher dominant female breeders performed the most care and also displayed the highest levels of plasma testosterone (T) compared
with other individuals within the social group. We also found that dominant male breeders provided a similar amount of care
as did the subordinate helpers, but breeding males had the highest levels of 11-ketotestosterone (11KT), an important androgen
in fish. Breeders had higher levels of both androgens (T and 11KT) compared to helpers. There was a weak but significant positive correlation between T levels and the frequency of
care regardless of sex and status. Our results suggest that androgens may promote defense of young and are in contrast to
the commonly reported trade-off between androgen and parental care. 相似文献