Publications by authors named "Julia Day"

Article Synopsis
  • X-linked hypophosphataemia (XLH) is a chronic disorder that leads to bone deformities and affects quality of life due to symptoms like pain and fatigue.
  • Burosumab, a treatment for XLH, was approved for adults in 2020 and has shown positive effects in patients.
  • Three adults with ongoing XLH symptoms reported significant improvements in various aspects of their health, including pain relief, increased mobility, and better overall well-being after receiving burosumab treatment.
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Unusually for oceanic islands, the granitic Seychelles host multiple lineages of endemic amphibians. This includes an ancient (likely ca. 60 million years) radiation of eight caecilian species, most of which occur on multiple islands.

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Extant neosuchian crocodiles are represented by only 24 taxa that are confined to the tropics and subtropics. However, at other intervals during their 200 Myr evolutionary history the clade reached considerably higher levels of species-richness, matched by more widespread distributions. Neosuchians have occupied numerous habitats and niches, ranging from dwarf riverine forms to large marine predators.

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Systemic vasculitis encompasses a group of multisystem disorders; both the diseases and the treatment strategies can have a significant impact on a patient's health-related quality of life (HRQoL). Using patient-reported outcome measures (PROMs) and patient-reported experience measures (PREMs) to evaluate the patient's view of their condition, treatments, and healthcare journey is essential to the patient-centered care approach. In this paper, we discuss the use of generic, disease-specific, and treatment-specific PROMs and PREMs in systemic vasculitis and future research goals.

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Background: There are no effective treatments for brain tumor-related fatigue. We studied the feasibility of two novel lifestyle coaching interventions in fatigued brain tumor patients.

Methods: This phase I/feasibility multi-center RCT recruited patients with a clinically stable primary brain tumor and significant fatigue (mean Brief Fatigue Inventory [BFI] score ≥ 4/10).

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Article Synopsis
  • The study focuses on discovering cryptic species in tropical freshwater ecosystems, specifically through DNA sequencing and phylogenetic analysis of Mochokidae catfishes.
  • Researchers discovered approximately 50 potential new species within the Chiloglanis genus, nearly increasing its species richness by 80%, highlighting the importance of these habitats for biodiversity.
  • Biogeographic findings indicated the Congo Basin as key to mochokid diversity and suggested different diversification processes for the genera Synodontis and Chiloglanis, with the former showing in situ evolution and the latter indicating significant dispersal.
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Background: Cognitive deficits are common in people who have received cranial irradiation and have a serious impact on daily functioning and quality of life. The benefit of pharmacological and non-pharmacological treatment of cognitive deficits in this population is unclear. This is an updated version of the original Cochrane Review published in Issue 12, 2014.

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Article Synopsis
  • * This study utilizes historical museum specimens and modern genomic techniques to create a nearly complete phylogeny of Uropeltidae, confirming the grouping of genera and suggesting that Sri Lankan uropeltids share a single ancestral origin from India.
  • * The research indicates that the diversity of uropeltid species may be significantly underestimated and emphasizes the importance of integrating museum collections with molecular genetics to better understand the evolution and classification of lesser-known species.
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Background: Fatigue is a common and disabling symptom in people with a primary brain tumour (PBT). The effectiveness of interventions for treating clinically significant levels of fatigue in this population is unclear. This is an updated version of the original Cochrane Review published in Issue 4, 2016.

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Psoriatic arthritis is a heterogeneous condition with substantial challenges in optimising outcome measures for both clinical trials and daily practice. As with other inflammatory arthritides, there is no gold standard instrument for measuring disease activity or impact, both of which are key to evaluate therapeutic approaches in trials and monitor disease in daily practice. A wide range of domains have been highlighted in the Outcome Measures in Rheumatology (OMERACT) core domain set for psoriatic arthritis; reflecting the disease involvement in multiple tissues (joints, tendons, skin, and spine) and the heterogenous impact of the disease on individuals.

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Phylogenetic relationships of sub-Saharan African natricine snakes are understudied and poorly understood, which in turn has precluded analyses of the historical biogeography of the Seychelles endemic Lycognathophis seychellensis. We inferred the phylogenetic relationships of Seychelles and mainland sub-Saharan natricines by analysing a multilocus DNA sequence dataset for three mitochondrial (mt) and four nuclear (nu) genes. The mainland sub-Saharan natricines and L.

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Tetrapods and fish have adapted distinct carbamoyl-phosphate synthase (CPS) enzymes to initiate the ornithine urea cycle during the detoxification of nitrogenous wastes. We report evidence that in the ureotelic subgenus of extremophile fish , CPS III has undergone convergent evolution and adapted its substrate affinity to ammonia, which is typical of terrestrial vertebrate CPS I. Unusually, unlike in other vertebrates, the expression of CPS III in is localized to the skeletal muscle and is activated in the myogenic lineage during early embryonic development with expression remaining in mature fish.

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Article Synopsis
  • The study explores cardiac development in a non-model fish species, revealing gene expression patterns that are similar to well-known vertebrate models but also distinct in certain aspects.
  • Researchers observed significant vascularization in the fish's yolk prior to hatching and identified key cardiac transcription factors that are involved in other developmental processes like blood, limbs, and muscle formation.
  • The findings suggest that this fish exhibits conserved molecular mechanisms of development, which may provide insights into how species adapt to extreme environmental conditions, especially in light of climate change.
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Background: Island systems offer excellent opportunities for studying the evolutionary histories of species by virtue of their restricted size and easily identifiable barriers to gene flow. However, most studies investigating evolutionary patterns and processes shaping biotic diversification have focused on more recent (emergent) rather than ancient oceanic archipelagos. Here, we focus on the granitic islands of the Seychelles, which are unusual among island systems because they have been isolated for a long time and are home to a monophyletic radiation of caecilian amphibians that has been separated from its extant sister lineage for ca.

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Discordance between the mitochondrial and nuclear genomes is a prevalent phenomenon in nature, in which the underlying processes responsible are considered to be important in shaping genetic variation in natural populations. Among the evolutionary processes that best explain such genomic mismatches incomplete lineage sorting and introgression are commonly identified, however, many studies are unable to distinguish between these hypotheses, which has become a major challenge in the field. In this issue of Molecular Ecology, Firneno et al.

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White-eyes (Zosterops) are a hyper-diverse genus of passerine birds that have rapidly radiated across the Afrotropics and Southeast Asia. Despite their broad range, a disproportionately large number of species are currently recognised from islands compared to the mainland. Described species-level diversity of this 'great speciator' from continental Africa-Arabia is strikingly low, despite the vast size and environmental complexity of this region.

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The oxidative metabolism of dopamine and consequent oxidative stress are implicated in dopaminergic neuronal loss, mediating the pathogenesis of Parkinson's disease (PD). The inducible detoxifying antioxidative enzyme Quinone oxidoreductase (NQO1) (NAD(P)H: quinone oxidoreductase 1), neuroprotective to counteract reactive oxidative species, is most prominent in the active stage of the disease and virtually absent at the end stage of the disease. However, the molecular mechanism dictating NQO1 expression oscillation remains unclear.

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Article Synopsis
  • Cichlids have diversified significantly across Africa, particularly in rivers and lakes, with a focus on the economically important oreochromine cichlids, or tilapia, which have unique adaptations to soda environments.
  • This study presents a comprehensive DNA analysis of the Oreochromis genus and closely related Alcolapia, revealing discordance between nuclear and mitochondrial DNA, which may suggest complex evolutionary histories.
  • The research indicates that adaptation to harsh conditions has occurred multiple times in Oreochromis, with extreme adaptations likely originating once, leading to a taxonomic revision that places Alcolapia as a subgenus of Oreochromis.
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Background: The serum tumor markers has been widely used in ovarian cancer diagnosis. BRCA1/2 germline mutations are the most common predisposing factors for ovarian cancer development. This study aimed to comprehensively investigate serum tumor markers and BRCA1/2 germline mutations and analyze their associations with ovarian cancer.

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Article Synopsis
  • From the 1950s, East Africa has implemented aquaculture and fisheries programs focused on introduced species, though documentation in Tanzania has been lacking.
  • A study conducted between 2011 and 2017 identified tilapia species across 123 locations, revealing 14 native taxa and three species, including one exotic (blue-spotted tilapia) that have expanded their range.
  • Habitat modeling suggests that suitable conditions for these introduced species will persist and possibly expand due to changing climate projections, aiding in biodiversity management and informing future policies on aquaculture.
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Breast cancer, one of the most frequently occurring cancers worldwide, is the leading cause of cancer-related death among women. AKT1, PIK3CA, PTEN and TP53 mutations were common observed in breast cancer representing potential clinical biomarkers for cancer classification and treatment. A comprehensive knowledge of AKT1, PIK3CA, PTEN and TP53 mutations in breast cancer was still insufficient in Chinese population.

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Geographic isolation is suggested to be among the most important processes in the generation of cichlid fish diversity in East Africa's Great Lakes, both through isolation by distance and fluctuating connectivity caused by changing lake levels. However, even broad scale phylogeographic patterns are currently unknown in many non-cichlid littoral taxa from these systems. To begin to address this, we generated restriction-site-associated DNA sequence (RADseq) data to investigate phylogeographic structure throughout Lake Tanganyika (LT) in two broadly sympatric rocky shore catfish species from independent evolutionary radiations with differing behaviors: the mouthbrooding claroteine, , and the brood-parasite mochokid, .

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Article Synopsis
  • - Ecomorphological differentiation plays an important role in adaptive radiations, showing that species tend to specialize and expand their ecological niches when they diverge in new habitats!* - The study focuses on oreochromine cichlid fishes (Alcolapia) that adapted to herbivorous diets after colonizing an isolated lake, highlighting the correlation between their physical traits and the environment they occupy!* - Findings indicate that while these fish exhibit significant ecological and morphological diversity, their genetic differences are limited, suggesting a rapid adaptation to the lake environment from a generalist ancestor.*
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Aim: Despite the greatest butterfly diversity on Earth occurring in the Neotropical Andes and Amazonia, there is still keen debate about the origins of this exceptional biota. A densely sampled calibrated phylogeny for a widespread butterfly subtribe, Oleriina (Nymphalidae: Ithomiini) was used to estimate the origin, colonization history and diversification of this species-rich group.

Location: Neotropics.

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Mitochondrial genome (mitogenome) sequences are being generated with increasing speed due to the advances of next-generation sequencing (NGS) technology and associated analytical tools. However, detailed comparisons to explore the utility of alternative NGS approaches applied to the same taxa have not been undertaken. We compared a 'traditional' Sanger sequencing method with two NGS approaches (shotgun sequencing and non-indexed, multiplex amplicon sequencing) on four different sequencing platforms (Illumina's HiSeq and MiSeq, Roche's 454 GS FLX, and Life Technologies' Ion Torrent) to produce seven (near-) complete mitogenomes from six species that form a small radiation of caecilian amphibians from the Seychelles.

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