The changing face of paediatric diabetes.
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ABSTRACT:
SUBMITTER: Shah AS
PROVIDER: S-EPMC7056583 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, myelopathy, and cerebral ALD. Adrenal insufficiency affects over 80% of ALD patients. Cerebral ALD affects one-third of boys under the age of 12 and progresses to total disability and death without treatment. Hematopoietic stem cell transplantation (HSCT) remains the only disease-modifying therapy if completed in the early stages of cerebral ALD, but it does not affect the course of adrenal insufficiency. It has significant associated morbidity and mortality. A recent gene therapy clinical trial for ALD reported short-term MRI and neurological outcomes comparable to historical patients treated with HSCT without the associated adverse side effects. In addition, over a dozen states have started newborn screening (NBS) for ALD, with the number of states expecting to double in 2020. Genetic testing of NBS-positive neonates has identified novel variants of unknown significance, providing further opportunity for genetic characterization but also uncertainty in the monitoring and therapy of subclinical and/or mild adrenal insufficiency or cerebral involvement. As more individuals with ALD are identified at birth, it remains uncertain if availability of matched donors, transplant (and, potentially, gene therapy) centers, and specialists may affect the timely treatment of these individuals. As these promising gene therapy trials and NBS transform the clinical management and outcomes of ALD, there will be an increasing need for the endocrine management of presymptomatic and subclinical adrenal insufficiency. (Endocrine Reviews 41: 1 - 17, 2020).
| S-EPMC7286618 | biostudies-literature
Project description:Reading has been a source of joy to man since several hundreds of years. The invention of paper made books widely available and libraries became commonplace. But now the situation is slowly but surely changing. Paper and books are becoming costlier and the popularity of the electronic media is increasing. Medical books and libraries also face competition from the electronic media. The MEDLARS, an excellent example of this technological revolution is now available all across India through the National Informatics Centre and it appears to be very cost effective decision for even peripheral hospitals to acquire a MEDLARS facility.
| S-EPMC5530785 | biostudies-other
Project description:The pace of pathogen discovery is rapidly accelerating. This reflects not only factors that enable the appearance and globalization of new microbial infections, but also improvements in methods for ascertaining the cause of a new disease. Innovative molecular diagnostic platforms, investments in pathogen surveillance (in wildlife, domestic animals and humans) and the advent of social media tools that mine the World Wide Web for clues indicating the occurrence of infectious-disease outbreaks are all proving to be invaluable for the early recognition of threats to public health. In addition, models of microbial pathogenesis are becoming more complex, providing insights into the mechanisms by which microorganisms can contribute to chronic illnesses like cancer, peptic ulcer disease and mental illness. Here, I review the factors that contribute to infectious-disease emergence, as well as strategies for addressing the challenges of pathogen surveillance and discovery.
| S-EPMC4098826 | biostudies-literature
Project description:BACKGROUND:Female biomedical scientists tend to publish fewer articles as last author than their male colleagues and accrue fewer citations per publication. We seek to understand whether epidemiology follows this pattern. METHODS:We gathered aggregate information on the current gender distribution of epidemiology departments (n = 29 of 71 surveyed), societies (n = 4 of 8), and journal editorial boards (n = 6 of 6) using two online surveys and publicly available online information. Bibliometric data from 4,149 articles published between 2008 and 2012 in six high-impact epidemiology journals were drawn from Web of Science and PubMed. RESULTS:We observed a higher prevalence of female than male doctoral students and epidemiology faculty, particularly at lower faculty ranks. A total of 54% of society members were female. Among editorial boards, all current and emeritus editors-in-chief were male and board membership was largely male (64%). Females were more likely to be first authors, but less likely to be last authors. There were no differences in accrued citations at the 50th percentile by first or last author gender. However, articles with male first and last authors tend to accrue more citations (5.7 citations, 95% CI: 2.1, 9.4), mostly driven by the most highly cited articles. This disparity is not fully explained by potential confounders, including seniority. CONCLUSIONS:We found a greater number of female epidemiologists in early-career positions and further evidence of potential gender disparity in publication metrics in epidemiology. If epidemiology continues to be practiced by a majority of women, it remains to be seen if these patterns will change over time.
| S-EPMC5285305 | biostudies-literature
Project description:Cognitive gender differences and the reasons for their origins have fascinated researchers for decades. Using nationally representative data to investigate gender differences in cognitive performance in middle-aged and older populations across Europe, we show that the magnitude of these differences varies systematically across cognitive tasks, birth cohorts, and regions, but also that the living conditions and educational opportunities individuals are exposed to during their formative years are related to their later cognitive performance. Specifically, we demonstrate that improved living conditions and less gender-restricted educational opportunities are associated with increased gender differences favoring women in some cognitive functions (i.e., episodic memory) and decreases (i.e., numeracy) or elimination of differences in other cognitive abilities (i.e., category fluency). Our results suggest that these changes take place due to a general increase in women's cognitive performance over time, associated with societal improvements in living conditions and educational opportunities.
| S-EPMC4136621 | biostudies-literature
Project description:Kynurenines are the products of tryptophan metabolism. Among them, kynurenine and kynurenic acid are generally thought to have neuroprotective properties, while 3-hydroxykynurenine, 3-hydroxyanthranilic acid and quinolinic acid are considered neurotoxic. They participate in immunoregulation and inflammation and possess pro- or anti-excitotoxic properties, and their involvement in oxidative stress has also been suggested. Consequently, it is not surprising that kynurenines have been closely related to neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis and multiple sclerosis. More information about the less-known metabolites, picolinic and cinnabarinic acid, evaluation of new receptorial targets, such as aryl-hydrocarbon receptors, and intensive research on the field of the immunomodulatory function of kynurenines delineated the high importance of this pathway in general homeostasis. Emerging knowledge about the kynurenine pathway provides new target points for the development of therapeutical solutions against neurodegenerative diseases.
| S-EPMC4463617 | biostudies-literature
Project description:The face of science has changed. Women now feature alongside men at the forefront of many fields, and this is particularly true in evolutionary biology. This special issue celebrates the outstanding achievements and contributions of women in evolutionary biology, by highlighting a sample of their research and accomplishments. In addition to original research contributions, this collection of articles contains personal reflections to provide perspective and advice on succeeding as a woman in science. By showcasing the diversity and research excellence of women and drawing on their experiences, we wish to enhance the visibility of female scientists and provide inspiration as well as role models. These are exciting times for evolutionary biology, and the field is richer and stronger for the diversity of voices contributing to the field.
| S-EPMC4780375 | biostudies-other
Project description:In the four years since the publication of the first two 'complete' human chromosome sequences the type of research being done on each has shifted subtly, reflecting the impact of genomic data on biological science in general. There is now considerably more gene-expression evidence to support predicted genes, and the annotation of functions for previously unknown genes, including those implicated in disease, is gradually improving.
| S-EPMC463270 | biostudies-literature
Project description:In the past decade, research in genetic disorders of hypophosphatemia has significantly expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) is the most common inherited form of rickets due to renal phosphate wasting. Recent understanding of the mechanisms of disease and role of fibroblast growth factor 23 (FGF-23) in XLH and other hypophosphatemic disorders have opened new potential therapeutic avenues. We will discuss the current standard of treatment for XLH as well as promising future directions under study.
| S-EPMC4170520 | biostudies-literature
Project description:ObjectiveA wealth of data is generated through Australia's universal health care arrangements. However, use of these data has been hampered by different federal and state legislation, privacy concerns and challenges in linking data across jurisdictions. A series of data reforms have been touted to increase population health research capacity in Australia, including pharmacoepidemiology research. Here we catalogued research leveraging Australia's Pharmaceutical Benefits Scheme (PBS) data (2014-2018) and discussed these outputs in the context of previously implemented and new data reforms.MethodsWe conducted a systematic review of population-based studies using PBS dispensing claims. Independent reviewers screened abstracts of 4,996 articles and 310 full-text manuscripts. We characterised publications according to study population, analytical approach, data sources used, aims and medicines focus.ResultsWe identified 180 studies; 133 used individual-level data, 70 linked PBS dispensing claims with other health data (66 across jurisdictions). Studies using individual-level data focussed on Australians receiving government benefits (87 studies) rather than all PBS-eligible persons. 63 studies examined clinician or patient practices and 33 examined exposure-outcome relationships (27 evaluated medicines safety, 6 evaluated effectiveness). Medicines acting on the nervous and cardiovascular system account for the greatest volume of PBS medicines dispensed and were the most commonly studied (67 and 40 studies, respectively). Antineoplastic and immunomodulating agents account for approximately one third of PBS expenditure but represented only 10% of studies in this review.ConclusionsThe studies in this review represent more than a third of all population-based pharmacoepidemiology research published in the last three decades in Australia. Recent data reforms have contributed to this escalating output. However, studies are concentrated among specific subpopulations and medicines classes, and there remains a limited understanding of population benefits and harms derived from medicines use. The current draft Data Availability and Transparency legislation should further bolster efforts in population health research.
| S-EPMC8107783 | biostudies-literature