Temporary streams in temperate zones: recognizing, monitoring and restoring transitional aquatic-terrestrial ecosystems

Temporary streams are defined by periodic flow cessation, and may experience partial or complete loss of surface water. The ecology and hydrology of these transitional aquatic-terrestrial ecosystems have received unprecedented attention in recent years. Research has focussed on the arid, semi-arid, and Mediterranean regions in which temporary systems are the dominant stream type, and those in cooler, wetter temperate regions with an oceanic climate influence are also receiving increasing attention. These oceanic systems take diverse forms, including meandering alluvial plain rivers, ‘winterbourne’ chalk streams, and peatland gullies. Temporary streams provide ecosystem services and support a diverse biota that includes rare and endemic specialists. We examine this biota and illustrate that temporary stream diversity can be higher than in comparable perennial systems, in particular when differences among sites and times are considered; these diversity patterns can be related to transitions between lotic, lentic, and terrestrial instream conditions. Human impacts on temperate-zone temporary streams are ubiquitous, and result from water-resource and land-use-related stressors, which interact in a changing climate to alter natural flow regimes. These impacts may remain uncharacterized due to inadequate protection of small temporary streams by current legislation, and hydrological and biological monitoring programs therefore require expansion to better represent temporary systems. Novel, temporary-stream-specific biomonitors and multi-metric indices require development, to integrate characterization of ecological quality during lotic, lentic, and terrestrial phases. In addition, projects to restore flow regimes, habitats, and communities may be required to improve the ecological quality of temporary stream

Visualising and quantifying the variability of hydrological state in intermittent rivers

The hydrology of intermittent rivers has been characterised using either flow regimes, with limited spatial resolution, or network contraction, with limited temporal resolution. Exploration of the dynamic behaviour of these rivers, on which highly diverse biological communities depend, requires longitudinal, year-round observations with a more detailed classification of hydrological state than can be provided by gauging stations or wet/dry mapping alone. Observations of dry, ponded, moderate flow and high flow hydrological states spanning 20 years with approximately monthly frequency along ten chalk rivers in the south-east of England were visualised. There was slower transitioning between hydrological states and less spatial fragmentation on rivers with groundwater-dominated regimes than on those more influenced by superficial deposits. Seasonal patterns in both the composition and configuration of states were demonstrated using adapted landscape metrics. Responses to hydrological extremes and anthropogenic influences included drying downstream of the source and an artificially near-perennial reach. A framework is proposed for the categorisation of metrics of hydrological state and demonstrates that the classification and dimensional limitations of traditional approaches cannot fully characterise the hydrological behaviour of intermittent rivers. Such characterisation is an important step towards the tailored assessments required for effective management of these dynamic systems

Hormonal contraception among electronic cigarette users and cardiovascular risk: a systematic review

Background: Women who use combined hormonal contraceptives and cigarettes have an increased risk for cardiovascular (CV) events. We reviewed the literature to determine whether women who use hormonal contraceptives (HC) and electronic cigarettes (e-cigarettes) also have an increased risk. Study Design: Systematic review. Methods: We searched for articles reporting myocardial infarction (MI), stroke, venous thromboembolism, peripheral arterial disease or changes to CV markers in women using e-cigarettes and HC. We also searched for indirect evidence, such as CV outcomes among e-cigarette users in the general population and among HC users exposed to nicotine, propylene glycol or glycerol. Results: No articles reported on outcomes among e-cigarette users using HC. Among the general population, 13 articles reported on heart rate or blood pressure after e-cigarette use. These markers generally remained normal, even when significant changes were observed. In three studies, changes were less pronounced after e-cigarette use than cigarette use. One MI was reported among 1012 people exposed to ecigarettes in these studies. One article on nicotine and HC exposure found both exposures to be significantly associated with acute changes to heart rate, though mean heart rate remained normal. No articles on propylene glycol or glycerol and HC exposure were identified. Conclusion: We identified no evidence on CV outcomes among e-cigarette users using HC. Limited data reporting mostly acute outcomes suggested that CV events are rare among e-cigarette users in the general population and that e-cigarettes may affect heart rate and blood pressure less than conventional cigarettes. There is a need for research assessing joint HC and e-cigarette exposure on clinical CV outcomes

Improving the professional knowledge base for education: Using knowledge management (KM) and Web 2.0 tools

Improving education systems is an elusive goal. Despite considerable investment, international studies such as the OECD Teaching and Learning International Survey (TALIS) project and the McKinsey Report How the world’s best performing schools come out on top indicate that improving teacher quality is more important than increased financial investment. Both reports challenge governments, academics and practitioners to adopt new ways of sharing and building knowledge. This paper makes the case for national education systems to adopt tried and tested knowledge management and web 2.0 tools used by other sectors and highlights the neglected potential of teacher educators as agents for improvement

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo heterozygous ANKRD17 variants. The mutational spectrum of this cohort of 34 individuals from 32 families is highly suggestive of haploinsufficiency as the underlying mechanism of disease, with 21 truncating or essential splice site variants, 9 missense variants, 1 in-frame insertion-deletion, and 1 microdeletion (1.16 Mb). Consequently, our data indicate that loss of ANKRD17 is likely the main cause of phenotypes previously associated with large multi-gene chromosomal aberrations of the 4q13.3 region. Protein modeling suggests that most of the missense variants disrupt the stability of the ankyrin repeats through alteration of core structural residues. The major phenotypic characteristic of our cohort is a variable degree of developmental delay/intellectual disability, particularly affecting speech, while additional features include growth failure, feeding difficulties, non-specific MRI abnormalities, epilepsy and/or abnormal EEG, predisposition to recurrent infections (mostly bacterial), ophthalmological abnormalities, gait/balance disturbance, and joint hypermobility. Moreover, many individuals shared similar dysmorphic facial features. Analysis of single-cell RNA-seq data from the developing human telencephalon indicated ANKRD17 expression at multiple stages of neurogenesis, adding further evidence to the assertion that damaging ANKRD17 variants cause a neurodevelopmental disorder.Neurolog