Hemihypertrophy of one leg and congenital retroperitoneal tumor: Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) belongs to the so-called imprinting disorders and has an incidence of 1:15’000 – 26’000. It is characterized as an overgrowth syndrome with variable expression of symptoms such as exomphalos, macroglossia, neonatal hypoglycemia, earlobe creases, hemihypertrophy, perinatal overgrowth and an increased risk of embryonic tumors. Genomic imprinting leads to an altered expression of gene parts dependent on parental heredity due to DNA-methylation. The affected (imprinted) regions in BWS are typically located on chromosome 11p15.5. The respective genes have regulatory function for cellular growth with the epigenetic changes leading to either decreased inhibition or increased expression of growth promoting genes. In BWS, about 50 % of the infants show a loss of methylation in the Imprinting Control Region (ICR)-2, normally expressed by the maternal chromosome only, leading to a reduced expression of a growth inhibitor gene (CDKN1C). In 5 –10 % of BWS, gain of methylation in the telomeric ICR-1 results in an increased expression of the insulin-growth-factor-2 gene (usually only expressed by the paternal allele) and a reduced expression of the oncosuppressor gene H19 which is usually expressed by the maternal allele. 20 –25 % of patients with BWS show paternal uniparental disomy (UPD) of chromosome 11 (patUPD11) resulting in an altered methylation at both regions ICR-1 and ICR-2 with only paternal alleles. In 10 % of all BWS cases, the reason remains unclear with unknown molecular defects

Bioinformatic evaluation of L-arginine catabolic pathways in 24 cyanobacteria and transcriptional analysis of genes encoding enzymes of L-arginine catabolism in the cyanobacterium Synechocystis sp. PCC 6803

Schriek S, Rückert C, Staiger D, Pistorius EK, Michel K-P. Bioinformatic evaluation of L-arginine catabolic pathways in 24 cyanobacteria and transcriptional analysis of genes encoding enzymes of L-arginine catabolism in the cyanobacterium Synechocystis sp. PCC 6803. BMC Genomics. 2007;8(1): 437.BACKGROUND:So far very limited knowledge exists on L-arginine catabolism in cyanobacteria, although six major L-arginine-degrading pathways have been described for prokaryotes. Thus, we have performed a bioinformatic analysis of possible L-arginine-degrading pathways in cyanobacteria. Further, we chose Synechocystis sp. PCC 6803 for a more detailed bioinformatic analysis and for validation of the bioinformatic predictions on L-arginine catabolism with a transcript analysis.RESULTS:We have evaluated 24 cyanobacterial genomes of freshwater or marine strains for the presence of putative L-arginine-degrading enzymes. We identified an L-arginine decarboxylase pathway in all 24 strains. In addition, cyanobacteria have one or two further pathways representing either an arginase pathway or L-arginine deiminase pathway or an L-arginine oxidase/dehydrogenase pathway. An L-arginine amidinotransferase pathway as a major L-arginine-degrading pathway is not likely but can not be entirely excluded. A rather unusual finding was that the cyanobacterial L-arginine deiminases are substantially larger than the enzymes in non-photosynthetic bacteria and that they are membrane-bound. A more detailed bioinformatic analysis of Synechocystis sp. PCC 6803 revealed that three different L-arginine-degrading pathways may in principle be functional in this cyanobacterium. These are (i) an L-arginine decarboxylase pathway, (ii) an L-arginine deiminase pathway, and (iii) an L-arginine oxidase/dehydrogenase pathway. A transcript analysis of cells grown either with nitrate or L-arginine as sole N-source and with an illumination of 50 mumol photons m-2 s-1 showed that the transcripts for the first enzyme(s) of all three pathways were present, but that the transcript levels for the L-arginine deiminase and the L-arginine oxidase/dehydrogenase were substantially higher than that of the three isoenzymes of L-arginine decarboxylase.CONCLUSION:The evaluation of 24 cyanobacterial genomes revealed that five different L-arginine-degrading pathways are present in the investigated cyanobacterial species. In Synechocystis sp. PCC 6803 an L-arginine deiminase pathway and an L-arginine oxidase/dehydrogenase pathway represent the major pathways, while the L-arginine decarboxylase pathway most likely only functions in polyamine biosynthesis. The transcripts encoding the enzymes of the two major pathways were constitutively expressed with the exception of the transcript for the carbamate kinase, which was substantially up-regulated in cells grown with L-arginine

Detection of an L-amino acid dehydrogenase activity in Synechocystis sp. PCC 6803

The protein Slr0782 from Synechocystis sp. PCC 6803, which has similarity to L-amino acid oxidase from Synechococcus elongatus PCC 6301 and PCC 7942, has been characterized in part. Immunoblot blot analysis showed that Slr0782 is mainly thylakoid membrane-associated. Moreover, expression of slr0782 mRNA and Slr0782 protein were analyzed and an activity assay was developed. Utilizing toluene-permeabilized cells, an L-arginine-stimulated O2 uptake became detectable in Synechocystis sp. PCC 6803. Besides oxidizing the basic L-amino acids L-arginine, L-lysine, L-ornithine, and L-histidine, a number of other L-amino acids were also substrates, while D-amino acids were not. The best substrate was L-cysteine, and the second best was L-arginine. The L-arginine-stimulated O2 uptake was inhibited by cations. The inhibition by o-phenanthroline and salicylhydroxamic acid suggested the presence of a transition metal besides FAD in the enzyme. Moreover, it is shown that inhibitors of the respiratory electron transport chain, such as KCN and 2,5-dibromo-3-methyl-6-isopropyl-p-benzoquinone, also inhibited the L-arginine-stimulated O2 uptake, suggesting that Slr0782 functions as an L-arginine dehydrogenase, mediating electron transfer from L-arginine into the respiratory electron transport chain utilizing O2 as electron acceptor via cytochrome oxidase. The results imply that Slr0782 is an additional substrate dehydrogenase being able to interact with the electron transport chain of the thylakoid membrane

Exploring South Africa’s southern frontier: A 20-year vision for polar research through the South African National Antarctic Programme

Antarctica, the sub-Antarctic islands and surrounding Southern Ocean are regarded as one of the planet’s last remaining wildernesses, ‘insulated from threat by [their] remoteness and protection under the Antarctic Treaty System’1 . Antarctica encompasses some of the coldest, windiest and driest habitats on earth. Within the Southern Ocean, sub-Antarctic islands are found between the Sub-Antarctic Front to the north and the Polar Front to the south. Lying in a transition zone between warmer subtropical and cooler Antarctic waters, these islands are important sentinels from which to study climate change.2 A growing body of evidence3,4 now suggests that climatically driven changes in the latitudinal boundaries of these two fronts define the islands’ short- and long-term atmospheric and oceanic circulation patterns. Consequently, sub-Antarctic islands and their associated terrestrial and marine ecosystems offer ideal natural laboratories for studying ecosystem response to change.5 For example, a recent study6 indicates that the shift in the geographical position of the oceanic fronts has disrupted inshore marine ecosystems, with a possible impact on top predators. Importantly, biotic responses are variable as indicated by different population trends of these top predators.7,8 When studied collectively, these variations in species’ demographic patterns point to complex spatial and temporal changes within the broader sub-Antarctic ecosystem, and invite further examination of the interplay between extrinsic and intrinsic drivers

Exploring South Africa's southern frontier : a 20-year vision for polar research through the South African National Antarctic Programme

Antarctica, the sub-Antarctic islands and surrounding Southern Ocean are regarded as one of the planet’s last remaining wildernesses, ‘insulated from threat by [their] remoteness and protection under the Antarctic Treaty System’. Antarctica encompasses some of the coldest, windiest and driest habitats on earth. Within the Southern Ocean, sub-Antarctic islands are found between the Sub-Antarctic Front to the north and the Polar Front to the south. Lying in a transition zone between warmer subtropical and cooler Antarctic waters, these islands are important sentinels from which to study climate change. A growing body of evidence now suggests that climatically driven changes in the latitudinal boundaries of these two fronts define the islands’ short- and long-term atmospheric and oceanic circulation patterns. Consequently, sub-Antarctic islands and their associated terrestrial and marine ecosystems offer ideal natural laboratories for studying ecosystem response to change. For example, a recent study indicates that the shift in the geographical position of the oceanic fronts has disrupted inshore marine ecosystems, with a possible impact on top predators. Importantly, biotic responses are variable as indicated by different population trends of these top predators. When studied collectively, these variations in species’ demographic patterns point to complex spatial and temporal changes within the broader sub-Antarctic ecosystem, and invite further examination of the interplay between extrinsic and intrinsic drivers.http://www.sajs.co.zaam2017GeneticsMammal Research InstituteZoology and Entomolog

Global assessment of marine plastic exposure risk for oceanic birds

Plastic pollution is distributed patchily around the world’s oceans. Likewise, marine organisms that are vulnerable to plastic ingestion or entanglement have uneven distributions. Understanding where wildlife encounters plastic is crucial for targeting research and mitigation. Oceanic seabirds, particularly petrels, frequently ingest plastic, are highly threatened, and cover vast distances during foraging and migration. However, the spatial overlap between petrels and plastics is poorly understood. Here we combine marine plastic density estimates with individual movement data for 7137 birds of 77 petrel species to estimate relative exposure risk. We identify high exposure risk areas in the Mediterranean and Black seas, and the northeast Pacific, northwest Pacific, South Atlantic and southwest Indian oceans. Plastic exposure risk varies greatly among species and populations, and between breeding and non-breeding seasons. Exposure risk is disproportionately high for Threatened species. Outside the Mediterranean and Black seas, exposure risk is highest in the high seas and Exclusive Economic Zones (EEZs) of the USA, Japan, and the UK. Birds generally had higher plastic exposure risk outside the EEZ of the country where they breed. We identify conservation and research priorities, and highlight that international collaboration is key to addressing the impacts of marine plastic on wide-ranging species

Global assessment of marine plastic exposure risk for oceanic birds

Plastic pollution is distributed patchily around the world's oceans. Likewise, marine organisms that are vulnerable to plastic ingestion or entanglement have uneven distributions. Understanding where wildlife encounters plastic is crucial for targeting research and mitigation. Oceanic seabirds, particularly petrels, frequently ingest plastic, are highly threatened, and cover vast distances during foraging and migration. However, the spatial overlap between petrels and plastics is poorly understood. Here we combine marine plastic density estimates with individual movement data for 7137 birds of 77 petrel species to estimate relative exposure risk. We identify high exposure risk areas in the Mediterranean and Black seas, and the northeast Pacific, northwest Pacific, South Atlantic and southwest Indian oceans. Plastic exposure risk varies greatly among species and populations, and between breeding and non-breeding seasons. Exposure risk is disproportionately high for Threatened species. Outside the Mediterranean and Black seas, exposure risk is highest in the high seas and Exclusive Economic Zones (EEZs) of the USA, Japan, and the UK. Birds generally had higher plastic exposure risk outside the EEZ of the country where they breed. We identify conservation and research priorities, and highlight that international collaboration is key to addressing the impacts of marine plastic on wide-ranging species.B.L.C., C.H., and A.M. were funded by the Cambridge Conservation Initiative’s Collaborative Fund sponsored by the Prince Albert II of Monaco Foundation. E.J.P. was supported by the Natural Environment Research Council C-CLEAR doctoral training programme (Grant no. NE/S007164/1). We are grateful to all those who assisted with the collection and curation of tracking data. Further details are provided in the Supplementary Acknowledgements. Any use of trade, firm, or product names is for descriptive purposes only and does not imply endorsement by the U.S. Government.Peer reviewe

Global assessment of marine plastic exposure risk for oceanic birds

Plastic pollution is distributed patchily around the world’s oceans. Likewise, marine organisms that are vulnerable to plastic ingestion or entanglement have uneven distributions. Understanding where wildlife encounters plastic is crucial for targeting research and mitigation. Oceanic seabirds, particularly petrels, frequently ingest plastic, are highly threatened, and cover vast distances during foraging and migration. However, the spatial overlap between petrels and plastics is poorly understood. Here we combine marine plastic density estimates with individual movement data for 7137 birds of 77 petrel species to estimate relative exposure risk. We identify high exposure risk areas in the Mediterranean and Black seas, and the northeast Pacific, northwest Pacific, South Atlantic and southwest Indian oceans. Plastic exposure risk varies greatly among species and populations, and between breeding and non-breeding seasons. Exposure risk is disproportionately high for Threatened species. Outside the Mediterranean and Black seas, exposure risk is highest in the high seas and Exclusive Economic Zones (EEZs) of the USA, Japan, and the UK. Birds generally had higher plastic exposure risk outside the EEZ of the country where they breed. We identify conservation and research priorities, and highlight that international collaboration is key to addressing the impacts of marine plastic on wide-ranging species

Ultra-low-dose lung multidetector computed tomography in children - Approaching 0.2 millisievert

PURPOSE To compare objective and subjective parameters in image quality and radiation dose of two MDCTs (helical 64 detector CT vs. axial 256 detector CT) in paediatric lung CT. METHODS Radiation dose and image quality were compared between non-enhanced lung CT from a helical 64-slice multidetector CT (MDCT 1) and a 256-slice scanner (MDCT 2) with axial wide-cone acquisition and using deep learning image reconstruction. In 23 size-matched paediatric studies (age 2-18 years) from each scanner, the radiation exposure, signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), image sharpness and delineation of small airways were assessed. Subjective image quality was rated by 6 paediatric radiologists. RESULTS While MDCT 2 provided higher SNR and CNR, subjective image quality was not significantly different between studies from both scanners. Radiation exposure was lower in studies from MDCT 2 (CTDIvol 0.26 ± 0.14 mGy, effective dose 0.23 ± 0.11 mSv) than from MDCT 1 (CTDIvol 0.96 ± 0.52 mGy, effective dose 1.13 ± 0.58 mSv), p < 0.001. Despite lower radiation dose for the scout images, the relative scout-scan-ratio increased from 2.64 ± 1.42 % in MDCT 1 to 6.60 ± 5.03 % in MDCT 2 (p = 0.001). CONCLUSIONS By using latest scanner technology effective radiation dose can be reduced to 0.1-0.3 mSv for lung CT in children without compromising image quality. Scout image dose increasingly accounts for substantial portions of the total scan dose and needs to be optimized. In children CT should be performed on state-of-the-art MDCT scanners with size-adapted exposure protocols and iterative reconstruction