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INTRODUCTION: Recombinant porcine FVIII (rpFVIII) (Obizur, Susoctcog-alfa, Takeda, Japan) is licensed for the treatment of bleeding in acquired Haemophilia A (AHA). The summary of product characteristics state that monitoring should be by one stage assay (OSA) rather than chromogenic assay (CSA). CSA have been shown to underestimate activity when rpFVIII is added to plasma in vitro. METHODS: Samples from three AHA patients (n = 21) (pre- and post rpFVIII) were assessed using FVIII:C assays; OSA methods: Actin, Actin FS, Actin FSL and Pathromtin SL performed on CS5100i (Sysmex, Kobe, Japan); APTT-SP, SynthASil and SynthAFax performed on ACL TOP (Werfen, Barcelona, Spain). CSA methods on CS5100i: Siemens Chromogenic Assay, Biophen FVIII:C, Technochrom FVIII:C; on ACL TOP: Rox Factor VIII, Coamatic Factor VIII and CRYOcheck Factor VIII. RESULTS: OSA and CSA varied according to reagent used median OSA 61 IU/dL (range 41.5-81 IU/dL (ANOVA p < 0.0001)) median CSA 46.5 IU/dL (range of method specific medians 36.5-84 IU/dL (ANOVA p < 0.0001)). Amongst OSA, Actin FS was associated with the highest FVIII:C, APTT-SP was associated with the lowest. Variation in CSA results by different methods was also seen with highest FVIII:C levels obtained using the Technochrom FVIII:C and the lowest levels obtained with Siemens Assay. CONCLUSION: The relationship between OSA and CSA was not consistent between method or patient. Previously there has been reports of underestimation by CSA in in vitro spiked samples. Investigation into concentration of phospholipids in the APTT reagents may explain some of these variations.
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Hemofilia A , Hemostáticos , Humanos , Suínos , Animais , Fator VIII , Actinas , Hemofilia A/diagnóstico , Hemofilia A/tratamento farmacológico , Plasma , Testes de Coagulação Sanguínea/métodosRESUMO
Bi12O17Cl2 is a potential photocatalyst in practical applications due to its excellent photostability, visible light activity, and competitive bandgap energy. However, the fast recombination of photogenerated charge carriers makes it impractical for pollution mitigation. Recently, aggregated porphyrins have emerged as photosensitizers in light-dependent applications such as photocatalysis. Although Bi12O17Cl2 and porphyrin can function as separate photocatalysts, their photocatalytic properties in terms of visible light adsorption, charge separation and transport, can be improved when they are combined to form heterostructure. In this study, rod-shaped aggregated 5,10,15, 20-Tetrakis (4-carboxyphenyl) porphyrin was synthesized by CTAB-assisted, self-assembly strategy and Bi12O17Cl2 by a facile microwave method. The porphyrin and Bi12O17Cl2 were combined to generate a series of x%Porphyrin@Bi12O17Cl2 having 0.02% wt., 0.1% wt., 0.4% wt., 1% wt. and 10% wt. as compositions of porphyrin. The materials' photocatalytic degradation efficiency was tested on Rhodamine B dye as a representative pollutant. The best and worst performances were reported for 1%Porphyrin@Bi12O17Cl2 and 10%Porphyrin@Bi12O17Cl2, respectively, which are 3.1 and 0.5 times increases in efficiency compared to pure Bi12O17Cl2. From the radical trapping experiment, electrons and superoxide were the dominant reactive species in the degradation process. The enhanced photocatalytic capability of the materials was attributed to the photosensitizing property of porphyrin and the heterojunction formation, which promotes the separation of photogenerated charge carriers. A plausible step-scheme (S-scheme) was proposed for the photocatalytic degradation mechanism. The S-scheme provided the high redox potential of the photogenerated charge carriers. The findings herein offer a new option for improving the photocatalytic performance of Bi12O17Cl2 for environmental applications through the photosensitization strategy.
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AIMS: To determine the prevalence of the ATP Binding Cassette Subfamily B Member 1-1Δ mutation (ABCB1-1Δ; previously Multidrug Resistance 1 (MDR1) mutation) in a cohort of New Zealand Huntaway dogs. MATERIALS AND METHODS: Samples were opportunistically collected from Huntaway dogs (n = 189) from throughout New Zealand. Buccal swabs were collected from 42 Huntaways from the Wairarapa region and 147 blood samples from Huntaways from the Gisborne, Waikato, Manawatu/Whanganui, Hawkes Bay, Canterbury and Otago regions. DNA was extracted from all samples and tested for the presence of the ABCB1-1Δ allele. RESULTS: Of 189 Huntaway dogs that were tested, two were found to be heterozygous carriers of the ABCB1-1Δ allele and the remaining 187/189 dogs were homozygous for the wild type allele. No dogs homozygous for the mutation were identified. CONCLUSIONS AND CLINICAL RELEVANCE: The results of this study show that the ABCB1-1Δ allele is present in Huntaway dogs. The low prevalence in this convenience sample suggests that the prevalence of this allele in the Huntaway population is likely to be low. We recommend that veterinary clinicians discuss the potential for this mutation in Huntaways with dog owners including the clinical implications for dogs that are homozygous for the mutated allele and the potential for testing for the mutation, as they would do for other known mutations.
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Membro 1 da Subfamília B de Cassetes de Ligação de ATP , Cães Trabalhadores , Animais , Membro 1 da Subfamília B de Cassetes de Ligação de ATP/genética , Mutação , Nova Zelândia , Prevalência , Estudos de Coortes , Cães Trabalhadores/genéticaRESUMO
INTRODUCTION: Non-parallelism in factor assays can lead to incorrect factor activities. Parallelism can be assessed by calculating the coefficient of variation (CV) of results obtained on 3 dilutions of the same sample. Some authors have proposed that if there is <15% then the average activity is reportable. Some analysers use a slope ratio (SR) to calculate parallelism, with an acceptance range of approximately 0.9-1.1. METHODS: We evaluated CV and SR in one stage FII-FXII assays on Sysmex CS5100i using Innovin or Actin FS. Frozen normal and pathological plasmas, plasmas containing Direct Oral Anticoagulants, Direct Thrombin Inhibitors or Lupus Anticoagulant were analysed to assess possible non-parallelism. RESULTS: In plasmas with factor levels >25 IU/dl (plus no interfering substances) all CVs were < 15%. One sample (low factor activities 10-15 IU/dl), had CVs > 15% in FII, FVII and FXII assays only. SR outside of 0.9-1.1 were seen in FII and FXII assays at different levels of clotting factor including some within the normal range. Non-parallelism was detected more frequently with SR than CV for those with interfering substances. CONCLUSIONS: SR outside of 0.9-1.1 were seen in different levels of clotting factors, including samples which did not contain interfering substances. The target of 15% CV was a better discriminator than a SR for acceptance. When factor levels were reduced to around 10-15 IU/dl, a target 20 %CV was more appropriate than 15%. It might be appropriate for laboratories to assess locally whether their acceptance criteria need to be wider at low levels of clotting factors.
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Fatores de Coagulação Sanguínea , Laboratórios , Humanos , Testes de Coagulação Sanguínea/métodosRESUMO
A significant amount of research has been conducted on the development and application of photocatalytic materials for the visible light degradation of organic pollutants in wastewater. However, most pollutant degradation studies are conducted using simulated wastewater often prepared using DI water. This is far removed from the realities of environmentally relevant water systems. It is therefore important to investigate the activity of these semiconductor materials with real water samples. In this study, the photocatalytic activity of the photocatalyst was investigated in the secondary effluent of a wastewater treatment plant (WWTP) in Pretoria, South Africa, for the degradation of phenol under visible light irradiation. The experimental design was done using the Taguchi method L16 orthogonal tray with three factors (pH, initial phenol concentration, and photocatalyst dosage) and four levels. The results show that pH is the highest-ranked significant factor influencing the degradation rate, closely followed by the initial concentration of the pollutant. The photocatalyst dosage had the least significant impact on degradation. The effects of individual anion components such as Cl-, NO3-, NO2-, SO42- and cations such as Ca2+, Mg2+, Zn2+, and K+ were investigated. While Cl- did not negatively influence the degradation rate, the results show that NO3- and SO42- inhibit the degradation of phenol. More specifically, the presence of nitrites resulted in total impeding of the degradation process illustrating that nitrite concentrations ≥ 20 ppm should be removed from wastewater prior to photocatalytic degradation. The cations investigated promoted the degradation of phenol. Generally, there was enhanced degradation in the water matrix when compared to DI water, and the results revealed improved degradation efficiency due to the cumulative impact of various components of the wastewater.
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Poluentes Ambientais , Fenol , Águas Residuárias , África do Sul , Luz , Fenóis , Água , Cátions , CatáliseRESUMO
Mutation - whilst stochastic - is frequently biased toward certain loci. When combined with selection this results in highly repeatable and predictable evolutionary outcomes. Immotile variants of the bacterium Pseudomonas fluorescens (SBW25) possess a 'mutational hotspot' that facilitates repeated occurrences of an identical de novo single nucleotide polymorphism when re-evolving motility, where ≥95% independent lines fix the mutation ntrB A289C. Identifying hotspots of similar potency in other genes and genomic backgrounds would prove valuable for predictive evolutionary models, but to do so we must understand the genomic features that enable such a hotspot to form. Here we reveal that genomic location, local nucleotide sequence, gene strandedness and presence of mismatch repair proteins operate in combination to facilitate the formation of this mutational hotspot. Our study therefore provides a framework for utilising genomic features to predict and identify hotspot positions capable of enforcing near-deterministic evolution.
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Microbial fuel cell (MFC) architectural modification is increasingly becoming an important area of research due to the need to improve energy recovery. This study presents a low-cost modification method of the anode that does not require pre-treatment-step involving hazardous chemicals to improve performance. The modification step involves deposition of granular activated carbon (GAC) which is highly conductive and provides a high specific surface area inside a carbon cloth that acts as an anode and as a supporting material. The GAC particle size of 0.6-1.1 mm resulted in an increase in air-cathode MFC performance due to an increase in available surface area of 879.5 m2 g-1 for attachment of cells based on Brunauer, Emmett, and Teller (BET) results, and an increase in the appropriate surface for attachment of cells which was rough based on the scanning electron microscope (SEM) results. On the other hand, although GAC with size of particles of 0.45-0.6 mm had the highest available surface area for attachment of cells, it lacked the appropriate surface for attachment of cells and reduced MFC performance. This means that particle size optimization of GAC is essential since there is a limit to which the particle diameter can be reduced. The utilization of the GAC with the optimized particle size produced an output voltage of 507.5 mV and maximum power output of 1287.7 mW m-3 at current output of 2537.5 mA m-3. This study also showed that there is an economic benefit in modifying carbon cloth using GAC with optimized particle size.
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Fontes de Energia Bioelétrica , Carvão Vegetal , EletrodosRESUMO
Cuprous oxide nanoparticles (Cu2O NPs) were fabricated in reverse micellar templates by using lipopeptidal biosurfactant as a stabilizing agent. Scanning electron microscopy (SEM), transmission electron microscopy (TEM), energy dispersive x-ray spectrum (EDX) and UV-Vis analysis were carried out to investigate the morphology, size, composition and stability of the nanoparticles synthesized. The antibacterial activity of the as-synthesized Cu2O NPs was evaluated against Gram-positive B. subtilis CN2 and Gram-negative P. aeruginosa CB1 strains, based on cell viability, zone of inhibition and minimal inhibitory concentration (MIC) indices. The lipopeptide stabilized Cu2O NPs with an ultra-small size of 30 ± 2 nm diameter exhibited potent antimicrobial activity against both Gram-positive and Gram-negative bacteria with a minimum inhibitory concentration of 62.5 µg/mL at pH5. MTT cell viability assay displayed a median inhibition concentration (IC50) of 21.21 µg/L and 18.65 µg/mL for P. aeruginosa and B. subtilis strains respectively. Flow cytometric quantification of intracellular reactive oxygen species (ROS) using 2,7-dichlorodihydrofluorescein diacetate staining revealed a significant ROS generation up to 2.6 to 3.2-fold increase in the cells treated with 62.5 µg/mL Cu2O NPs compared to the untreated controls, demonstrating robust antibacterial activity. The results suggest that lipopeptide biosurfactant stabilized Cu2O NPs could have promising potential for biocompatible bactericidal and therapeutic applications.
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Uniformly dispersed silver nanoparticles (AgNPs) with remarkable colloidal stability were synthesised using chemical reduction method in lipopeptide biosurfactant reverse micelles. Transmission Electron microscopy (TEM), Scanning electron microscopy (SEM) and UV-vis spectroscopy analysis exhibited monodisperse nanoparticles with spherical morphology of diameter of 21⯱â¯2. The lipopeptide stabilized AgNPs displayed remarkable antibacterial activity with minimum inhibitory concentration (MIC) value of 15.625⯵g/mL against Gram-negative Pseudomonas aeruginosa CB1 and Gram-positive Bacillus subtilis CN2 strains with a significant dose-dependent reduction of cell viability and loss of membrane integrity. Investigation of AgNPs internalization and dissolution assays demonstrated 42-fold higher leaching of the lipopeptide-stabilized AgNPs compared to the bare AgNPs, and concentration dependent increase in cellular uptake with subsequent damage to intracellular organelles. Further ultrastructural observation using TEM revealed internalization and strong binding of considerable amount of AgNPs on the lipopolysaccharide layer of the Gram-negative and peptidoglycans layer of Gram-positive bacteria indiscriminately, demonstrating robust antibacterial activity and potential application to treat multidrug resistant bacteria.
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Antibacterianos/farmacologia , Lipopeptídeos/química , Nanopartículas Metálicas/química , Prata/farmacologia , Tensoativos/química , Antibacterianos/química , Bacillus subtilis/efeitos dos fármacos , Testes de Sensibilidade Microbiana , Viabilidade Microbiana/efeitos dos fármacos , Pseudomonas aeruginosa/efeitos dos fármacos , Espécies Reativas de Oxigênio/metabolismo , Prata/químicaRESUMO
AIM: This paper describes an initiative facilitating comprehensive assessment and delivery of brief interventions for Maori youth in Northland, New Zealand. BACKGROUND: The population in Northland is predominantly Maori and is one of New Zealand's most deprived populations. Maori youth have the highest youth suicide rate in the developed world and elevated numbers of youth displaying mental health issues and/or risk behaviours are of grave national concern. Like Indigenous peoples worldwide, inequities persist for Maori youth accessing and engaging with healthcare services. DESCRIPTION: Taking services out to Maori youth in remote and isolated areas, Northland's youth specialist nurses are reducing some barriers to accessing health care. The youth version of the Case-finding and Help Assessment Tool is a New Zealand-developed, e-screening tool for youth psychosocial issues, facilitating comprehensive assessment and brief intervention delivery. DISCUSSION: Early detection of, and timely intervention for, mental health and risk behaviours can significantly improve health outcomes in youth. However, for this to happen barriers preventing youth from accessing appropriate care need to be overcome. CONCLUSION: Youth specialist nurses could improve access to care for youth from ethnic minorities, rural and isolated regions, and areas of high deprivation without overwhelming the medical profession. IMPLICATIONS FOR NURSING POLICY: Specialist nurses are trained and empowered to practice at the top of their scope. With general practitioner oversight and standing order sign off specialist nurses can work autonomously to improve access to health services, without increasing the workload of doctors. IMPLICATIONS FOR NURSING PRACTICE: Encouraging continuous self-reflection of the nurse's effectiveness in meeting patient needs, holistically and culturally, facilitates the provision of accessible care that is patient-centred and culturally safe.
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Etnicidade/estatística & dados numéricos , Acessibilidade aos Serviços de Saúde/organização & administração , Disparidades em Assistência à Saúde/organização & administração , Povos Indígenas/estatística & dados numéricos , Havaiano Nativo ou Outro Ilhéu do Pacífico/estatística & dados numéricos , Cuidados de Enfermagem/organização & administração , População Rural/estatística & dados numéricos , Adolescente , Feminino , Humanos , Masculino , Nova Zelândia , Pesquisa Qualitativa , Adulto JovemRESUMO
AIMS: To determine the long-term effectiveness of an individually tailored text-message diabetes self-management support programme, SMS4BG, on glycaemic control at 2 years in adults with diabetes with an HbA1c concentration > 64 mmol/mol (8%). METHODS: We conducted a 2-year follow-up of a two-arm, parallel, randomized controlled trial across health services in New Zealand. Participants were English-speaking adults with type 1 or 2 diabetes and with an HbA1c >64 mmol/mol (8%). In the main trial participants randomized to the intervention group (N=183) received up to 9 months of an automated tailored text-message programme in addition to usual care. Participants in the control group (N=183) received usual care for 9 months. In this follow-up study, 293 (80%) of 366 randomized participants in the main trial were included. The primary outcome measure was change in glycaemic control (HbA1c ) from baseline to 2 years. Mixed-effect models were used to compare the group differences at 3, 6, 9 and 24 months, adjusted for baseline HbA1c and stratification factors (health district category, diabetes type and ethnicity). RESULTS: The decrease in HbA1c at 2 years was significantly greater in the intervention group [mean (sd) -10 (18) mmol/mol or -0.9 (1.6)%] compared with the control group [mean (sd) -1 (20) mmol/mol or -0.1 (1.8)%], with an adjusted mean difference of -9 mmol/mol (95% CI -14, -5) or -0.8% (95% CI -1.2, -0.4; P<0.0001). CONCLUSIONS: Improvements in glycaemic control resulting from a text-message diabetes self-management support programme were sustained at 2 years after randomization. These findings support the implementation of SMS4BG in current practice.
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Diabetes Mellitus/terapia , Autogestão/métodos , Envio de Mensagens de Texto , Adolescente , Adulto , Idoso , Diabetes Mellitus/metabolismo , Feminino , Seguimentos , Hemoglobinas Glicadas/metabolismo , Controle Glicêmico , Humanos , Masculino , Pessoa de Meia-Idade , Havaiano Nativo ou Outro Ilhéu do Pacífico , Nova Zelândia , Ensaios Clínicos Controlados Aleatórios como Assunto , População Branca , Adulto JovemRESUMO
The energetics of cast calcium sulfate dihydrate-aluminum thermites were investigated. The casts were prepared from water slurries with a solids content below 65 wt %. The base case thermite comprised 60 wt % calcium sulfate dihydrate as the oxidizer with 40 wt % aluminum as fuel. The heat of hydration of the base case was 83 ± 4 kJ·kg-1 (dihydrate basis) and the initial setting time was about 100 min. The compressive strength reached 2.9 ± 0.2 MPa after 3 days of drying in ambient air. The open air burn rate was 12.0 ± 1.6 mm· s-1 and a maximum surface temperature of 1370 ± 64 °C was recorded with a pyrometer. Bomb calorimetry indicated an energy output of 8.0 ± 1.1 MJ·kg-1, slightly lower than predicted by the Ekvi thermodynamic simulation. Substitution of 10 wt % of the oxidant with copper sulfate pentahydrate significantly decreased the initial setting time of the casts to less than 30 min but a secondary aluminum oxidation reaction commenced after 2 h. The density of the castings was varied by either adding hollow sodium borosilicate microspheres or by adding excess water during the casting process. The addition of the hollow glass microspheres caused a decrease in the burning rate. Dehydration of the casts by thermal treatments at either 155 or 200 °C led to significant increases in the burning rate.
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BACKGROUND: Octenidine is frequently used for infection prevention in neonatal and burn intensive care units, where Pseudomonas aeruginosa has caused nosocomial outbreaks. AIM: To investigate the efficacy and impact of using octenidine against P. aeruginosa. METHODS: Seven clinical isolates of P. aeruginosa were exposed to increasing concentrations of octenidine over several days. Fitness, minimum bactericidal concentrations after 1 min, 5 min and 24 h, and minimum inhibitory concentrations (MICs) of a variety of antimicrobials were measured for the parental and octenidine-adapted P. aeruginosa strains. Octenidine and chlorhexidine MICs of a population of P. aeruginosa isolated from a hospital drain trap, exposed to a diluted octenidine formulation four times daily for three months, were also tested. FINDINGS: Some planktonic cultures of P. aeruginosa survived >50% of the working concentration of an in-use octenidine formulation at the recommended exposure time. Seven strains of P. aeruginosa stably adapted following continuous exposure to increasing concentrations of octenidine. Adaptation increased tolerance to octenidine formulations and chlorhexidine up to 32-fold. In one strain, it also led to increased MICs of antipseudomonal drugs. Subsequent to continuous octenidine exposure of a multi-species community in a simulated clinical setting, up to eight-fold increased tolerance to octenidine and chlorhexidine of P. aeruginosa was also found, which was lost upon removal of octenidine. CONCLUSION: Incorrect use of octenidine formulations may lead to inadequate decontamination, and even increased tolerance of P. aeruginosa to octenidine, with resulting cross-resistance to other biocides.
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Adaptação Biológica , Clorexidina/farmacologia , Desinfetantes/farmacologia , Pseudomonas aeruginosa/efeitos dos fármacos , Piridinas/farmacologia , Microbiologia Ambiental , Hospitais , Humanos , Iminas , Testes de Sensibilidade Microbiana , Viabilidade Microbiana/efeitos dos fármacos , Pseudomonas aeruginosa/crescimento & desenvolvimento , Pseudomonas aeruginosa/isolamento & purificaçãoRESUMO
The optimum treatment for HNF1A/HNF4A maturity-onset diabetes of the young and ATP-sensitive potassium (KATP ) channel neonatal diabetes, outside pregnancy, is sulfonylureas, but there is little evidence regarding the most appropriate treatment during pregnancy. Glibenclamide has been widely used in the treatment of gestational diabetes, but recent data have established that glibenclamide crosses the placenta and increases risk of macrosomia and neonatal hypoglycaemia. This raises questions about its use in pregnancy. We review the available evidence and make recommendations for the management of monogenic diabetes in pregnancy. Due to the risk of stimulating increased insulin secretion in utero, we recommend that in women with HNF1A/ HNF4A maturity-onset diabetes of the young, those with good glycaemic control who are on a sulfonylurea per conception either transfer to insulin before conception (at the risk of a short-term deterioration of glycaemic control) or continue with sulfonylurea (glibenclamide) treatment in the first trimester and transfer to insulin in the second trimester. Early delivery is needed if the fetus inherits an HNF4A mutation from either parent because increased insulin secretion results in ~800-g weight gain in utero, and prolonged severe neonatal hypoglycaemia can occur post-delivery. If the fetus inherits a KATP neonatal diabetes mutation from their mother they have greatly reduced insulin secretion in utero that reduces fetal growth by ~900 g. Treating the mother with glibenclamide in the third trimester treats the affected fetus in utero, normalising fetal growth, but is not desirable, especially in the high doses used in this condition, if the fetus is unaffected. Prospective studies of pregnancy in monogenic diabetes are needed.
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Diabetes Mellitus Tipo 2/tratamento farmacológico , Glibureto/farmacocinética , Hipoglicemiantes/farmacocinética , Placenta/metabolismo , Gravidez em Diabéticas/tratamento farmacológico , Compostos de Sulfonilureia/uso terapêutico , Feminino , Glibureto/uso terapêutico , Humanos , Hipoglicemiantes/uso terapêutico , Relações Mãe-Filho , Placenta/efeitos dos fármacos , Guias de Prática Clínica como Assunto , Gravidez , Compostos de Sulfonilureia/farmacocinéticaRESUMO
An efficient dairy system, that implemented a combination of nitrogen (N) leaching mitigation strategies including lower N fertilizer input, standing cows off pasture for part of the day in autumn and winter (stand-off), and importing limited amounts of low protein supplements was evaluated over four consecutive years of a farmlet study. This efficient system consistently demonstrated a lower measured annual N leaching of 40 to 50% compared with a baseline system representing current practice with no mitigations. To maximize return from this system fewer cows but of higher genetic merit were used resulting in an average decrease in milk production of 2% and operating profit by 5% compared with the baseline system. The magnitude of the N leaching reduction from mitigation strategies was predicted in pre-trial modelling. Using similar mechanistic models in a post-trial study, we were able to satisfactorily predict the trends in the observed N leaching data over the four years. This enabled us to use the calibrated models to explore the contributions of the different mitigation strategies to the overall leaching reduction in the efficient system. In one of the years half of the leaching reduction was achieved by the 'input' component of the strategy (less feed N flowing through the herd from lower fertilizer use, less grass grown, and low-protein supplement use), while the other half was achieved by the stand-off strategy. However, these contributions are determined by the weather of a particular year. We estimate that on average stand-off would contribute 60% and 'input' 40% to the reduction. The implication is that farmers facing nutrient loss limitations have some current and some future technologies available to them for meeting these limitations. A shift towards the mitigations described here can result in a downward trend in their own N-loss metrics. The challenge will be to negate any reductions in production and profit, and remain competitive.
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Ração Animal , Indústria de Laticínios/métodos , Poluição Ambiental/prevenção & controle , Nitrogênio/análise , Animais , Bovinos , Clima , Suplementos Nutricionais , Feminino , Lactação , LeiteRESUMO
BACKGROUND: Previous studies suggest genome structure is largely conserved between Eucalyptus species. However, it is unknown if this conservation extends to more divergent eucalypt taxa. We performed comparative genomics between the eucalypt genera Eucalyptus and Corymbia. Our results will facilitate transfer of genomic information between these important taxa and provide further insights into the rate of structural change in tree genomes. RESULTS: We constructed three high density linkage maps for two Corymbia species (Corymbia citriodora subsp. variegata and Corymbia torelliana) which were used to compare genome structure between both species and Eucalyptus grandis. Genome structure was highly conserved between the Corymbia species. However, the comparison of Corymbia and E. grandis suggests large (from 1-13 MB) intra-chromosomal rearrangements have occurred on seven of the 11 chromosomes. Most rearrangements were supported through comparisons of the three independent Corymbia maps to the E. grandis genome sequence, and to other independently constructed Eucalyptus linkage maps. CONCLUSIONS: These are the first large scale chromosomal rearrangements discovered between eucalypts. Nonetheless, in the general context of plants, the genomic structure of the two genera was remarkably conserved; adding to a growing body of evidence that conservation of genome structure is common amongst woody angiosperms.
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Eucalyptus/genética , Rearranjo Gênico , Genômica , Myrtaceae/genética , Mapeamento Cromossômico , Genoma de Planta/genética , Técnicas de GenotipagemRESUMO
BACKGROUND: Children with neonatal diabetes often present with diabetic ketoacidosis and hence are at risk of cerebral oedema and subsequent long-term neurological deficits. These complications are difficult to identify because neurological features can also occur as a result of the specific genetic aetiology causing neonatal diabetes. CASE REPORTS: We report two cases of neonatal diabetes where ketoacidosis-related cerebral oedema was the major cause of their permanent neurological disability. Case 1 (male, 18 years, compound heterozygous ABCC8 mutation) and case 2 (female, 29 years, heterozygous KCNJ11 mutation) presented with severe diabetic ketoacidosis at 6 and 16 weeks of age. Both had reduced consciousness, seizures and required intensive care for cerebral oedema. They subsequently developed spastic tetraplegia. Neurological examination in adulthood confirmed spastic tetraplegia and severe disability. Case 1 is wheelchair-bound and needs assistance for transfers, washing and dressing, whereas case 2 requires institutional care for all activities of daily living. Both cases have first-degree relatives with the same mutation with diabetes, who did not have ketoacidosis at diagnosis and do not have neurological disability. DISCUSSION: Ketoacidosis-related cerebral oedema at diagnosis in neonatal diabetes can cause long-term severe neurological disability. This will give additional neurological features to those directly caused by the genetic aetiology of the neonatal diabetes. Our cases highlight the need for increased awareness of neonatal diabetes and earlier and better initial treatment of the severe hyperglycaemia and ketoacidosis often seen at diagnosis of these children.