248 research outputs found

    Genetic diversity of equine herpesvirus 1 isolated from neurological, abortigenic and respiratory disease outbreaks

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    Equine herpesvirus 1 (EHV-1) causes respiratory disease, abortion, neonatal death and neurological disease in equines and is endemic in most countries. The viral factors that influence EHV-1 disease severity are poorly understood, and this has hampered vaccine development. However, the N752D substitution in the viral DNA polymerase catalytic subunit has been shown statistically to be associated with neurological disease. This has given rise to the term “neuropathic strain,” even though strains lacking the polymorphism have been recovered from cases of neurological disease. To broaden understanding of EHV-1 diversity in the field, 78 EHV-1 strains isolated over a period of 35 years were sequenced. The great majority of isolates originated from the United Kingdom and included in the collection were low passage isolates from respiratory, abortigenic and neurological outbreaks. Phylogenetic analysis of regions spanning 80% of the genome showed that up to 13 viral clades have been circulating in the United Kingdom and that most of these are continuing to circulate. Abortion isolates grouped into nine clades, and neurological isolates grouped into five. Most neurological isolates had the N752D substitution, whereas most abortion isolates did not, although three of the neurological isolates from linked outbreaks had a different polymorphism. Finally, bioinformatic analysis suggested that recombination has occurred between EHV-1 clades, between EHV-1 and equine herpesvirus 4, and between EHV-1 and equine herpesvirus 8

    HNF1B Genetic Testing In a Turkish Cypriot Population with a High Incidence of Familial Kidney Disease

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    This article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text via the publisher's site.Published

    Total haemoglobin mass, but not haemoglobin concentration, is associated with preoperative cardiopulmonary exercise testing (CPET) derived oxygen consumption variables

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    BACKGROUND: Cardiopulmonary exercise testing (CPET) measures peak exertional oxygen consumption ( V˙O2peakV˙O2peak ) and that at the anaerobic threshold ( V˙O2V˙O2 at AT, i.e. the point at which anaerobic metabolism contributes substantially to overall metabolism). Lower values are associated with excess postoperative morbidity and mortality. A reduced haemoglobin concentration ([Hb]) results from a reduction in total haemoglobin mass (tHb-mass) or an increase in plasma volume. Thus, tHb-mass might be a more useful measure of oxygen-carrying capacity and might correlate better with CPET-derived fitness measures in preoperative patients than does circulating [Hb]. METHODS: Before major elective surgery, CPET was performed, and both tHb-mass (optimized carbon monoxide rebreathing method) and circulating [Hb] were determined. RESULTS: In 42 patients (83% male), [Hb] was unrelated to V˙O2V˙O2 at AT and V˙O2peakV˙O2peak (r=0.02, P=0.89 and r=0.04, P=0.80, respectively) and explained none of the variance in either measure. In contrast, tHb-mass was related to both (r=0.661, P<0.0001 and r=0.483, P=0.001 for V˙O2V˙O2 at AT and V˙O2peakV˙O2peak , respectively). The tHb-mass explained 44% of variance in V˙O2V˙O2 at AT (P<0.0001) and 23% in V˙O2peakV˙O2peak (P=0.001). CONCLUSIONS: In contrast to [Hb], tHb-mass is an important determinant of physical fitness before major elective surgery. Further studies should determine whether low tHb-mass is predictive of poor outcome and whether targeted increases in tHb-mass might thus improve outcome

    Young adults' perspectives on living with kidney failure: a systematic review and thematic synthesis of qualitative studies.

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    Young adults fare worse than younger adolescents or older adults on a broad range of health indicators. Those with a chronic illness such as renal failure are a particularly vulnerable group, who experience poor outcomes compared with both children and older adults. Understanding how being in receipt of renal replacement therapy (RRT) affects the lives of young adults might help us to better prepare and support these individuals for and on RRT, and improve outcomes. This study aimed to synthesise research describing young adults' experiences of the psychosocial impact of kidney failure and RRT.This article is freely available via Open Access. Click on the Additional Link above to access the full-text

    Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

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    Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published literature to date. We report a novel dominant REN mutation discovered in an individual after forty years of renal disease.This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site

    Analysis of Male Pheromones That Accelerate Female Reproductive Organ Development

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    Male odors can influence a female's reproductive physiology. In the mouse, the odor of male urine results in an early onset of female puberty. Several volatile and protein pheromones have previously been reported to each account for this bioactivity. Here we bioassay inbred BALB/cJ females to study pheromone-accelerated uterine growth, a developmental hallmark of puberty. We evaluate the response of wild-type and mutant mice lacking a specialized sensory transduction channel, TrpC2, and find TrpC2 function to be necessary for pheromone-mediated uterine growth. We analyze the relative effectiveness of pheromones previously identified to accelerate puberty through direct bioassay and find none to significantly accelerate uterine growth in BALB/cJ females. Complementary to this analysis, we have devised a strategy of partial purification of the uterine growth bioactivity from male urine and applied it to purify bioactivity from three different laboratory strains. The biochemical characteristics of the active fraction of all three strains are inconsistent with that of previously known pheromones. When directly analyzed, we are unable to detect previously known pheromones in urine fractions that generate uterine growth. Our analysis indicates that pheromones emitted by males to advance female puberty remain to be identified
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