30 research outputs found

    Long-term temperature trends and variability on Spitsbergen: the extended Svalbard Airport temperature series, 1898-2012

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    One of the few long instrumental records available for the Arctic is the Svalbard Airport composite series that hitherto began in 1911, with observations made on Spitsbergen, the largest island in the Svalbard Archipelago. This record has now been extended to 1898 with the inclusion of observations made by hunting and scientific expeditions. Temperature has been observed almost continuously in Svalbard since 1898, although at different sites. It has therefore been possible to create one composite series for Svalbard Airport covering the period 1898–2012, and this valuable new record is presented here. The series reveals large temperature variability on Spitsbergen, with the early 20th century warming as one striking feature: an abrupt change from the cold 1910s to the local maxima of the 1930s and 1950s. With the inclusion of the new data it is possible to show that the 1910s were colder than the years at the start of the series. From the 1960s, temperatures have increased, so the present temperature level is significantly higher than at any earlier period in the instrumental history. For the entire period, and for all seasons, there are positive, statistically significant trends. Regarding the annual mean, the total trend is 2.6°C/century, whereas the largest trend is in spring, at 3.9°C/century. In Europe, it is the Svalbard Archipelago that has experienced the greatest temperature increase during the latest three decades. The composite series may be downloaded from the home page of the Norwegian Meteorological Institute and should be used with reference to the present article

    A robust, multisite Holocene history of drift ice off northern Iceland: implications for North Atlantic climate

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    An important indicator of Holocene climate change is provided by evidence for variations in the extent of drift ice. A proxy for drift ice in Iceland waters is provided by the presence of quartz. Quantitative xray diffraction analysis of the \u3c 2 mm sediment fraction was undertaken on 16 cores from around Iceland. The quartz weight (wt.)% estimates from each core were integrated into 250-yr intervals between −0.05 and 11.7 cal. ka BP. Median quartz wt.% varied between 0.2 and 3.4 and maximum values ranged between 2.8 and 11.8 wt.%. High values were attained in the early Holocene and minimum values were reached 6–7 cal. ka BP. Quartz wt.% then rose steadily during the late Holocene. Our data exhibit no correlation with counts on haematite-stained quartz (HSQ) grains from VM129-191 west of Ireland casting doubt on the ice-transport origin. A pilot study on the provenance of Fe oxide grains in two cores that cover the last 1.3 and 6.1 cal. ka BP indicated a large fraction of the grains between 1 and 6 cal. ka BP were from either Icelandic or presently unsampled sources. However, there was a dramatic increase in Canadian and Russian sources from the Arctic Ocean ~1 cal. ka BP. These data may indicate the beginning of an Arctic Oscillation-like climate mode

    A robust, multisite Holocene history of drift ice off northern Iceland: implications for North Atlantic climate

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    An important indicator of Holocene climate change is provided by evidence for variations in the extent of drift ice. A proxy for drift ice in Iceland waters is provided by the presence of quartz. Quantitative xray diffraction analysis of the \u3c 2 mm sediment fraction was undertaken on 16 cores from around Iceland. The quartz weight (wt.)% estimates from each core were integrated into 250-yr intervals between −0.05 and 11.7 cal. ka BP. Median quartz wt.% varied between 0.2 and 3.4 and maximum values ranged between 2.8 and 11.8 wt.%. High values were attained in the early Holocene and minimum values were reached 6–7 cal. ka BP. Quartz wt.% then rose steadily during the late Holocene. Our data exhibit no correlation with counts on haematite-stained quartz (HSQ) grains from VM129-191 west of Ireland casting doubt on the ice-transport origin. A pilot study on the provenance of Fe oxide grains in two cores that cover the last 1.3 and 6.1 cal. ka BP indicated a large fraction of the grains between 1 and 6 cal. ka BP were from either Icelandic or presently unsampled sources. However, there was a dramatic increase in Canadian and Russian sources from the Arctic Ocean ~1 cal. ka BP. These data may indicate the beginning of an Arctic Oscillation-like climate mode

    A Robust, Multisite Holocene History of Drift Ice off Northern Iceland: Implications for North Atlantic Climate

    Get PDF
    An important indicator of Holocene climate change is provided by evidence for variations in the extent of drift ice. A proxy for drift ice in Iceland waters is provided by the presence of quartz. Quantitative xray diffraction analysis of the \u3c 2 mm sediment fraction was undertaken on 16 cores from around Iceland. The quartz weight (wt.)% estimates from each core were integrated into 250-yr intervals between −0.05 and 11.7 cal. ka BP. Median quartz wt.% varied between 0.2 and 3.4 and maximum values ranged between 2.8 and 11.8 wt.%. High values were attained in the early Holocene and minimum values were reached 6–7 cal. ka BP. Quartz wt.% then rose steadily during the late Holocene. Our data exhibit no correlation with counts on haematite-stained quartz (HSQ) grains from VM129-191 west of Ireland casting doubt on the ice-transport origin. A pilot study on the provenance of Fe oxide grains in two cores that cover the last 1.3 and 6.1 cal. ka BP indicated a large fraction of the grains between 1 and 6 cal. ka BP were from either Icelandic or presently unsampled sources. However, there was a dramatic increase in Canadian and Russian sources from the Arctic Ocean ~1 cal. ka BP. These data may indicate the beginning of an Arctic Oscillation-like climate mode

    Human Dimensions of the Arctic System: Interdisciplinary Approaches to the Dynamics of Social Environment Relationships

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    In 1997 the National Science Foundation Arctic System Science (ARCSS) program launched the Human Dimensions of the Arctic System (HARC) initiative. Its goal is to “understand the dynamics of linkages between human populations and the biological and physical environment of the Arctic, at scales ranging from local to global.” ....This section describes several HARC projects to give an idea of the scope of the initiative and the breadth of inquiry that has so far been undertaken

    Prevalence and architecture of de novo mutations in developmental disorders.

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    The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

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    We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

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    The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

    Sea Ice as Enemy and Friend: The Case of Iceland and Labrador

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    Dr. Astrid Ogilvie, CICERO, Centre for International Climate and Environmental Research, Oslo, talks here in the NRF 6th open assembly in Hveragerði, Iceland, in September of 2011. Please click on the link above to see the video
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