358 research outputs found

    XX/XY Sex Chromosomes in the South American Dwarf Gecko (\u3cem\u3eGonatodes humeralis\u3c/em\u3e)

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    Sex-specific genetic markers identified using restriction site-associated DNA sequencing, or RADseq, permits the recognition of a species’ sex chromosome system in cases where standard cytogenetic methods fail. Thus, species with male-specific RAD markers have an XX/XY sex chromosome system (male heterogamety) while species with female-specific RAD markers have a ZZ/ZW sex chromosome (female heterogamety). Here, we use RADseq data from 5 male and 5 female South American dwarf geckos (Gonatodes humeralis) to identify an XX/XY sex chromosome system. This is the first confidently known sex chromosome system in a Gonatodes species. We used a low-coverage de novo G. humeralis genome assembly to design PCR primers to validate the male-specificity of a subset of the sex-specific RADseq markers and describe how even modest genome assemblies can facilitate the design of sex-specific PCR primers in species with diverse sex chromosome systems

    Heads or tails: L1 insertion-associated 5' homopolymeric sequences

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    <p>Abstract</p> <p>Background</p> <p>L1s are one of the most successful autonomous mobile elements in primate genomes. These elements comprise as much as 17% of primate genomes with the majority of insertions occurring via target primed reverse transcription (TPRT). Twin priming, a variant of TPRT, can result in unusual DNA sequence architecture. These insertions appear to be inverted, truncated L1s flanked by target site duplications.</p> <p>Results</p> <p>We report on loci with sequence architecture consistent with variants of the twin priming mechanism and introduce dual priming, a mechanism that could generate similar sequence characteristics. These insertions take the form of truncated L1s with hallmarks of classical TPRT insertions but having a poly(T) simple repeat at the 5' end of the insertion. We identified loci using computational analyses of the human, chimpanzee, orangutan, rhesus macaque and marmoset genomes. Insertion site characteristics for all putative loci were experimentally verified.</p> <p>Conclusions</p> <p>The 39 loci that passed our computational and experimental screens probably represent inversion-deletion events which resulted in a 5' inverted poly(A) tail. Based on our observations of these loci and their local sequence properties, we conclude that they most probably represent twin priming events with unusually short non-inverted portions. We postulate that dual priming could, theoretically, produce the same patterns. The resulting homopolymeric stretches associated with these insertion events may promote genomic instability and create potential target sites for future retrotransposition events.</p

    Intimate Partner Violence in Plastic Surgery Practice: Perceptions and Preparedness Amongst Practicing Plastic Surgeons

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    INTRODUCTION It is estimated that 4 of 10 women in the United States have experienced one or more forms of intimate partner violence (IPV) in their lifetime. The US Preventative Service Task Force recommends that clinicians screen women of reproductive age for IPV and refer women who screen positive to ongoing support services (B recommendation). We aim to identify the perceptions, attitudes, and preparedness of plastic surgeons regarding intimate partner violence METHODS An IRB approved survey was sent to members of the American Society of Plastic Surgeons. The survey contained three sections: (1) surgeon and practice demographics, (2) surgeon experience with intimate partner violence and preparedness of using protocols to screen for intimate partner violence, and (3) surgeon attitudes and perception of those experiencing and inflicting intimate partner violence. Four follow-up emails were sent to enhance response rate. RESULTS A total of 107 of 2,535 plastic surgeons responded (4.22% response rate), and 81 (75.7%) of them were men. Most surgeons, 57 (64.0%) respondents, estimate that intimate partner violence is rare (year) in their practice while 22 (24.7%) surgeons were unsure of the prevalence. Only 17 (37.8%) surgeons responded that they feel comfortable screening for intimate partner violence while 41 (43.2%) believe that screening protocols are likely to capture patients’ experiences. Most surgeons (71.6%) state they have no established protocol if a patient discloses intimate partner violence. CONCLUSIONS The prevalence of IPV is well understood, but educational efforts and adequate screening protocols are needed within the plastic surgery community to identify and treat patients experiencing intimate partner violence

    Regional seasonality of fire size and fire weather conditions across Australia's northern savanna

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    Australia's northern savannas have among the highest fire frequencies in the world. The climate is monsoonal, with a long, dry season of up to 9 months, during which most fires occur. The Australian Government's Emissions Reduction Fund allows land managers to generate carbon credits by abating the direct emissions of CO2 equivalent gases via prescribed burning that shifts the fire regime from predominantly large, high-intensity late dry season fires to a more benign, early dry season fire regime. However, the Australian savannas are vast and there is significant variation in weather conditions and seasonality, which is likely to result in spatial and temporal variations in the commencement and length of late dry season conditions. Here, we assess the temporal and spatial consistency of the commencement of late dry season conditions, defined as those months that maximise fire size and where the most extreme fire weather conditions exist. The results demonstrate that significant yearly, seasonal and spatial variations in fire size and fire weather conditions exist, both within and between bioregions. The effective start of late dry season conditions, as defined by those months that maximise fire size and where the most extreme fire weather variables exist, is variable across the savannas

    An allometric scaling relationship in the brain of preterm infants

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    Allometry has been used to demonstrate a power–law scaling relationship in the brain of premature born infants. Forty-nine preterm infants underwent neonatal MRI scans and neurodevelopmental testing at age 2. Measures of cortical surface area and total cerebral volume demonstrated a power–law scaling relationship (α = 1.27). No associations were identified between these measures and investigated clinical variables. Term equivalent cortical surface area and total cerebral volume measures and scaling exponents were not related to outcome. These findings confirm a previously reported allometric scaling relationship in the preterm brain, and suggest that scaling is not a sensitive indicator of aberrant cortical maturation

    Mobile DNA in Old World monkeys: A glimpse through the rhesus macaque genome

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    The completion of the draft sequence of the rhesus macaque genome allowed us to study the genomic composition and evolution of transposable elements in this representative of the Old World monkey lineage, a group of diverse primates closely related to humans. The L1 family of long interspersed elements appears to have evolved as a single lineage, and Alu elements have evolved into four currently active lineages. We also found evidence of elevated horizontal transmissions of retroviruses and the absence of DNA transposon activity in the Old World monkey lineage. In addition, ∟100 precursors of composite SVA (short interspersed element, variable number of tandem repeat, and Alu) elements were identified, with the majority being shared by the common ancestor of humans and rhesus macaques. Mobile elements compose roughly 50% of primate genomes, and our findings illustrate their diversity and strong influence on genome evolution between closely related species

    An alu-based phylogeny of gibbons (hylobatidae)

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    Gibbons (Hylobatidae) are small, arboreal apes indigenous to Southeast Asia that diverged from other apes ∟15-18 Ma. Extant lineages radiated rapidly 6-10 Ma and are organized into four genera (Hylobates, Hoolock, Symphalangus, and Nomascus) consisting of 12-19 species. The use of short interspersed elements (SINEs) as phylogenetic markers has seen recent popularity due to several desirable characteristics: the ancestral state of a locus is known to be the absence of an element, rare potentially homoplasious events are relatively easy to resolve, and samples can be quickly and inexpensively genotyped. During radiation of primates, one particular family of SINEs, the Alu family, has proliferated in primate genomes. Nomascus leucogenys (northern white-cheeked gibbon) sequences were analyzed for repetitive content with RepeatMasker using a custom library. The sequences containing Alu elements identified as members of a gibbon-specific subfamily were then compared with orthologous positions in other primate genomes. A primate phylogenetic panel consisting of 18 primate species, including 13 gibbon species representing all four extant genera, was assayed for all loci, and a total of 125 gibbon-specific Alu insertions were identified. The resulting amplification patterns were used to generate a phylogenetic tree. We demonstrate significant support for Symphalangus as the most basal lineage within the family. Our findings also place Nomascus as a derived lineage, sister to Hoolock, with the Nomascus-Hoolock clade sister to Hylobates. Further, our analysis groups N. leucogenys and Nomascus siki as sister taxa to the exclusion of the other Nomascus species assayed. This study represents the first use of SINEs to determine the genus level phylogenetic relationships within the family Hylobatidae. These relationships have been resolved with robust support at most internal nodes, demonstrating the utility of SINE-based phylogenetic analysis. We postulate that hybridization and rapid radiation may have contributed to the complex and contradictory findings of the previous studies. Our findings will aid in the conservation of these threatened primates and inform future studies of the biogeographical history and distribution of modern gibbon species. Š 2012 The Author

    Iceberg topography and volume classification using TanDEM-X interferometry

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    Icebergs in polar regions affect water salinity, alter marine habitats, and impose serious hazards on maritime operations and navigation. These impacts mainly depend on the iceberg volume, which remains an elusive parameter to measure. We investigate the capability of TanDEM-X bistatic single-pass synthetic aperture radar interferometry (InSAR) to derive iceberg subaerial morphology and infer total volume. We cross-verify InSAR results with Operation IceBridge (OIB) data acquired near Wordie Bay, Antarctica, as part of the OIB/TanDEM-X Antarctic Science Campaign (OTASC). While icebergs are typically classified according to size based on length or maximum height, we develop a new volumetric classification approach for applications where iceberg volume is relevant. For icebergs with heights exceeding 5 m, we find iceberg volumes derived from TanDEM-X and OIB data match within 7 %. We also derive a range of possible iceberg keel depths relevant to grounding and potential impacts on subsea installations. These results suggest that TanDEM-X could pave the way for future single-pass interferometric systems for scientific and operational iceberg mapping and classification based on iceberg volume and keel depth

    Determination of Optimal Deployment Strategy For Reboa in Patients With Non-Compressible Hemorrhage Below the Diaphragm

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    BACKGROUND: Non-compressible truncal hemorrhage (NCTH) is the leading cause of preventable death after trauma. Resuscitative endovascular balloon occlusion of the aorta (REBOA) achieves temporary hemorrhage control, supporting cardiac and cerebral perfusion prior to definitive hemostasis. Aortic zone selection algorithms vary among institutions. We evaluated the efficacy of an algorithm for REBOA use. METHODS: A multicenter prospective, observational study conducted at six level 1 trauma centers over 12 months. Inclusion criteria were age \u3e15 years with evidence of infradiaphragmatic NCTH needing emergent hemorrhage control within 60 min of ED arrival. An algorithm characterized by the results of focused assessment with sonography in trauma and pelvic X-ray was assessed post hoc for efficacy in a cohort of patients receiving REBOA. RESULTS: Of the 8166 patients screened, 78 patients had a REBOA placed. 21 patients were excluded, leaving 57 patients for analysis. The algorithm ensures REBOA deployment proximal to hemorrhage source to control bleeding in 98.2% of cases and accurately predicts the optimal REBOA zone in 78.9% of cases. If the algorithm was violated, bleeding was optimally controlled in only 43.8% (p=0.01). Three (75.0%) of the patients that received an inappropriate zone 1 REBOA died, two from multiple organ failure (MOF). All three patients that died with an inappropriate zone 3 REBOA died from exsanguination. DISCUSSION: This algorithm ensures proximal hemorrhage control and accurately predicts the primary source of hemorrhage. We propose a new algorithm that will be more inclusive. A zone 3 REBOA should not be performed when a zone 1 is indicated by the algorithm as 100% of these patients exsanguinated. MOF, perhaps from visceral ischemia in patients with an inappropriate zone 1 REBOA, may have been prevented with zone 3 placement or limited zone 1 occlusion time. LEVEL OF EVIDENCE: Level III
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