69 research outputs found

    Sediment-laden sea ice in southern Hudson Bay: Entrainment, transport, and biogeochemical implications

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    During a research expedition in Hudson Bay in June 2018, vast areas of thick (>10 m), deformed sediment-laden sea ice were encountered unexpectedly in southern Hudson Bay and presented difficult navigation conditions for the Canadian Coast Guard Ship Amundsen. An aerial survey of one of these floes revealed a maximum ridge height of 4.6 m and an average freeboard of 2.2 m, which corresponds to an estimated total thickness of 18 m, far greater than expected within a seasonal ice cover. Samples of the upper portion of the ice floe revealed that it was isothermal and fresh in areas with sediment present on the surface. Fine-grained sediment and larger rocks were visible on the ice surface, while a pronounced sediment band was observed in an ice core. Initial speculation was that this ice had formed in the highly dynamic Nelson River estuary from freshwater, but őī^{18}O isotopic analysis revealed a marine origin. In southern Hudson Bay, significant tidal forcing promotes both sediment resuspension and new ice formation within a flaw lead, which we speculate promotes the formation of this sediment-laden sea ice. Historic satellite imagery shows that sediment-laden sea ice is typical of southern Hudson Bay, varying in areal extent from 47 to 118 km2 during June. Based on an average sediment particle concentration of 0.1 mg mL^{‚Äď1} in sea ice, an areal extent of 51,924 km2 in June 2018, and an estimated regional end-of-winter ice thickness of 1.5 m, we conservatively estimated that a total sediment load of 7.8 √ó 106 t, or 150 t km^{‚Äď2}, was entrained within sea ice in southern Hudson Bay during winter 2018. As sediments can alter carbon concentrations and light transmission within sea ice, these first observations of this ice type in Hudson Bay imply biogeochemical impacts for the marine system

    GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

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    Objective: A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a similar constellation of findings. The goal of this study was to understand the genetic and molecular etiology of this condition.Methods: We applied whole exome sequencing (WES) superimposed on shared haplotype regions to identify the initial biallelic variants in GGPS1 followed by GGPS1 Sanger sequencing or WES in 5 additional families with the same phenotype. Molecular modeling, biochemical analysis, laser membrane injury assay, and the generation of a Y259C knock-in mouse were done.Results: A total of 11 patients in 6 families carrying 5 different biallelic pathogenic variants in specific domains of GGPS1 were identified. GGPS1 encodes geranylgeranyl diphosphate synthase in the mevalonate/isoprenoid pathway, which catalyzes the synthesis of geranylgeranyl pyrophosphate, the lipid precursor of geranylgeranylated proteins including small guanosine triphosphatases. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. There was delayed membrane healing after laser injury in patient-derived myogenic cells, and a knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality.Interpretation: The identification of specific GGPS1 mutations defines the cause of a unique form of muscular dystrophy with hearing loss and ovarian insufficiency and points to a novel pathway for this clinical constellation. ANN NEUROL 2020;88:332‚Äď347

    GGPS1 mutations cause muscular dystrophy/hearing loss/ovarian insufficiency syndrome

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    Objective A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a similar constellation of findings. The goal of this study was to understand the genetic and molecular etiology of this condition. Methods We applied whole exome sequencing (WES) superimposed on shared haplotype regions to identify the initial biallelic variants in GGPS1 followed by GGPS1 Sanger sequencing or WES in 5 additional families with the same phenotype. Molecular modeling, biochemical analysis, laser membrane injury assay, and the generation of a Y259C knock‚Äźin mouse were done. Results A total of 11 patients in 6 families carrying 5 different biallelic pathogenic variants in specific domains of GGPS1 were identified. GGPS1 encodes geranylgeranyl diphosphate synthase in the mevalonate/isoprenoid pathway, which catalyzes the synthesis of geranylgeranyl pyrophosphate, the lipid precursor of geranylgeranylated proteins including small guanosine triphosphatases. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. There was delayed membrane healing after laser injury in patient‚Äźderived myogenic cells, and a knock‚Äźin mouse of one of the mutations (Y259C) resulted in prenatal lethality. Interpretation The identification of specific GGPS1 mutations defines the cause of a unique form of muscular dystrophy with hearing loss and ovarian insufficiency and points to a novel pathway for this clinical constellation

    Conservation and genetic characterisation of common bean landraces from Cilento region (southern Italy): high differentiation in spite of low genetic diversity

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    Improving numeracy through values affirmation enhances decision and STEM outcomes

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    <div><p>Greater numeracy has been correlated with better health and financial outcomes in past studies, but causal effects in adults are unknown. In a 9-week longitudinal study, undergraduate students, all taking a psychology statistics course, were randomly assigned to a control condition or a values-affirmation manipulation intended to improve numeracy. By the final week in the course, the numeracy intervention (statistics-course enrollment combined with values affirmation) enhanced objective numeracy, subjective numeracy, and two decision-related outcomes (financial literacy and health-related behaviors). It also showed positive indirect-only effects on financial outcomes and a series of STEM-related outcomes (course grades, intentions to take more math-intensive courses, later math-intensive courses taken based on academic transcripts). All decision and STEM-related outcome effects were mediated by the changes in objective and/or subjective numeracy and demonstrated similar and robust enhancements. Improvements to abstract numeric reasoning can improve everyday outcomes.</p></div

    The Improving Rural Cancer Outcomes Trial: a cluster-randomised controlled trial of a complex intervention to reduce time to diagnosis in rural cancer patients in Western Australia.

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    BACKGROUND: Rural Australians have poorer survival for most common cancers, due partially to later diagnosis. Internationally, several initiatives to improve cancer outcomes have focused on earlier presentation to healthcare and timely diagnosis. We aimed to measure the effect of community-based symptom awareness and general practice-based educational interventions on the time to diagnosis in rural patients presenting with breast, prostate, colorectal or lung cancer in Western Australia. METHODS: 2 √ó 2 factorial cluster randomised controlled trial. Community Intervention: cancer symptom awareness campaign tailored for rural Australians. GP intervention: resource card with symptom risk assessment charts and local cancer referral pathways implemented through multiple academic detailing visits. Trial Area A received the community symptom awareness and Trial Area B acted as the community campaign control region. Within both Trial Areas general practices were randomised to the GP intervention or control. PRIMARY OUTCOME: total diagnostic interval (TDI). RESULTS: 1358 people with incident breast, prostate, colorectal or lung cancer were recruited. There were no significant differences in the median or ln mean TDI at either intervention level (community intervention vs control: median TDI 107.5 vs 92 days; ln mean difference 0.08 95% CI -0.06-0.23 P=0.27; GP intervention vs control: median TDI 97 vs 96.5 days; ln mean difference 0.004 95% CI -0.18-0.19 P=0.99). There were no significant differences in the TDI when analysed by factorial design, tumour group or sub-intervals of the TDI. CONCLUSIONS: This is the largest trial to test the effect of community campaign or GP interventions on timeliness of cancer diagnosis. We found no effect of either intervention. This may reflect limited dose of the interventions, or the limited duration of follow-up. Alternatively, these interventions do not have a measurable effect on time to cancer diagnosis

    Breeding strategies to enhance drought tolerance in crops.

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    ‚ÄúUndressing‚ÄĚ distress among cancer patients living in urban, regional, and remote locations in Western Australia

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    Purpose: People diagnosed with cancer from rural and remote locations may experience heightened distress because of distance from cancer treatment and support services. We examined whether remoteness and other factors are associated with psychosocial distress and explored commonly reported problems among cancer patients in Western Australia (WA). Methods: In a cross-sectional study, cancer patients newly referred to a Cancer Council WA Cancer Support Coordinator (CSC) were screened and assessed using the Distress Thermometer (DT) and Problem List (PL) and a standardized form, respectively. The index of remoteness was the Australian Standard Geographical Classification. The association between remoteness, demographic variables, and the frequency of problems endorsed on the PL was analyzed using bivariate analyses and a generalized linear mixed model (GLMM) regression. Results: Of 1032 patients referred to a CSC, 466 were screened (45.2 %) with complete data available for 441 patients. Patients from remote areas reported fewer problems than patients from urban and regional locations. Increasing remoteness was not associated with higher distress (r = -0.04, p = 0.43). Concerns reported differed by remoteness category and included worry, sadness, fears, finances, transportation, and physical symptoms. More emotional problems were independently associated with higher distress (ß = 0.47, p &lt; 0.001), explaining 17.31 % of the variance. Conclusions: There is no evidence that increasing remoteness is associated with higher distress. Emotional concerns and physical problems appear to be prevalent among cancer patients irrespective of urban or rural location. Specific concerns detected by distress screening, particularly emotional concerns, may warrant further assessment and targeted referrals

    Olive Genetic Resources

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    UMR AGAP - équipe AFEF - Architecture et fonctionnement des espèces fruitièresAs one of the most important and ancient fruit crops in the Mediterranean Basin, olive is characterized by a huge genetic patrimony, represented by cultivated and wild germplasm, ancient trees and related forms. The richness of this germplasm represents an unusual case among horticultural crops, due to species longevity, lack of new better performing genotypes, and the millennial tradition of cultivation. Focusing on a wide spectrum of genetic resources, their conservation, characterization, and management, this chapter tries to give an insight into the achievements and the necessities of this type of works in olive. Knowledge of existing diversity among the olive genetic resources is essential to maximize their conservation, safeguard, and exploitation
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