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Sökning: WFRF:(O'Hearn K)

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  • Sha, ZQ, et al. (författare)
  • Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium
  • 2022
  • Ingår i: Molecular psychiatry. - : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 27:4, s. 2114-2125
  • Tidskriftsartikel (refereegranskat)abstract
    • Small average differences in the left-right asymmetry of cerebral cortical thickness have been reported in individuals with autism spectrum disorder (ASD) compared to typically developing controls, affecting widespread cortical regions. The possible impacts of these regional alterations in terms of structural network effects have not previously been characterized. Inter-regional morphological covariance analysis can capture network connectivity between different cortical areas at the macroscale level. Here, we used cortical thickness data from 1455 individuals with ASD and 1560 controls, across 43 independent datasets of the ENIGMA consortium’s ASD Working Group, to assess hemispheric asymmetries of intra-individual structural covariance networks, using graph theory-based topological metrics. Compared with typical features of small-world architecture in controls, the ASD sample showed significantly altered average asymmetry of networks involving the fusiform, rostral middle frontal, and medial orbitofrontal cortex, involving higher randomization of the corresponding right-hemispheric networks in ASD. A network involving the superior frontal cortex showed decreased right-hemisphere randomization. Based on comparisons with meta-analyzed functional neuroimaging data, the altered connectivity asymmetry particularly affected networks that subserve executive functions, language-related and sensorimotor processes. These findings provide a network-level characterization of altered left-right brain asymmetry in ASD, based on a large combined sample. Altered asymmetrical brain development in ASD may be partly propagated among spatially distant regions through structural connectivity.
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4.
  • Margolis, Russell L, et al. (författare)
  • Huntington's Disease-like 2 (HDL2) in North America and Japan.
  • 2004
  • Ingår i: Annals of Neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 56:5, s. 670-4
  • Tidskriftsartikel (refereegranskat)abstract
    • Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q24.3, in a variably spliced exon of junctophilin-3. The frequency of HDL2 was determined in nine independent series of patients referred for HD testing or selected for the presence of an HD-like phenotype in North America or Japan. The repeat length, ancestry, and age of onset of all North American HDL2 cases were determined. The results show that HDL2 is very rare, with a frequency of 0 to 15% among patients in the nine case series with an HD-like presentation who do not have the HD mutation. HDL2 is predominantly, and perhaps exclusively, found in individuals of African ancestry. Repeat expansions ranged from 44 to 57 triplets, with length instability in maternal transmission detected in a repeat of r2=0.29, p=0.0098). The results further support the evidence that the repeat expansion at the chromosome 16q24.3 locus is the direct cause of HDL2 and provide preliminary guidelines for the genetic testing of patients with an HD-like phenotype.
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5.
  • Rona, P.A., et al. (författare)
  • Carslberg ridge and mid-atlantic ridge : slow-spreading apparent analogs
  • 2005
  • Ingår i: AGU, Fall Meeting. - : American Geophysical Union (AGU).
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • We compare morphology, tectonics, petrology, and hydrothermal activity of a known section of the Mid-Atlantic Ridge (MAR) between the Kane and Atlantis fracture zones (full multi-beam coverage 21N to 31N) to the lesser known Carlsberg Ridge (CR; limited multi-beam coverage plus satellite altimetry). The CR extends from the Owen Fracture Zone (10N) to the Vityaz Fracture Zone (5S) and spreads at half-rates (~1.2-1.8 cm/yr) similar to the MAR: 1) Morphology: Both ridges exhibit distinct segmentation (primarily sinistral) and axial valleys with high floor to crest relief (range 1122-1771 m). Average lengths of segments (CR: 70 km; MAR: 50 km) and crest-to crest width of the axial valley are greater on the CR (40 km) than MAR (23 km). Axial volcanic ridges form the neovolcanic zone on both ridges, typically 2.6 km wide and 213 m high on the CR. Average water depth near segment centers is greater on the MAR (3933 m) than the CR (3564 m). V-shaped patterns oblique to the spreading axis are present on both ridges. 2) Tectonics: Segments on each ridge are predominantly separated by short-offset (<30 km) non-transform discontinuities with longer transform faults generally spaced hundreds of kilometers apart. Bulls-eye Mantle Bouguer Lows (-30 to -50 mgal) are present at centers of spreading segments on both ridges. Metamorphic core complexes of lower crust and upper mantle are present on the MAR section (at fracture zones) and at least at one locality at 58.33E on the CR. 3) Petrology: MORB composition from our 20 stations along the CR fall into the MORB family, with no evidence of hotspot inputs (no excess K or Nb), or extreme fractionation, similar to the MAR section. REE and trace element patterns between 57E and 61E on the CR indicate increasing melt depletion to the northwest, while glasses exhibit a striking systematic increase in MgO (decrease in fractionation) to the northwest and attain among the most primitive composition of any ocean ridge adjacent to the Owen fracture zone (9.93wt percent). Sr, Nd, and Pb isotopic compositions of Indian Ocean MORB are distinct from those of other oceans. They exhibit relatively higher 87Sr/86Sr, and lower 143Nd/144Nd, 207Pb/204Pb and 208Pb/204Pb for a given 206Pb/204Pb invoking mixing and regional-scale contamination of a depleted mantle with a variously designated enriched reservoir (EM1, EM2, DUPAL, etc.). 4) Hydrothermal activity: The MAR section encompasses a low-T hydrothermal field driven by the serpentinization at the Atlantis fracture zone (Lost City at 30N), and three high-temperature fields driven by magmatic heat in the axial valley (Broken Spur 29N, TAG 26N, and Snake Pit 23N). A 70 km-long, 1000 m-thick megaplume was detected in the water column up to 1400 m above the CR axial valley centered at 6.05N, 60.95E in August 2003, the first clear evidence of high-temperature hydrothermal activity on the CR. Further CR hydrothermal evidence includes relict sulfide chimneys at 58E; Mn-oxide coatings on basalts in the axial valley with Fe/Mn ratios at the boundary between hydrogenous and hydrothermal composition with thickness at two stations (1.67S, 67.77E; 5.35S, 68.62E) suggestive of hydrothermal input; and a d3He anomaly (166 per mil) in the water column at one of our stations in April 1979 (5.35S, 68.62E).
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