4,948 research outputs found

    The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease

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    The diagnosis of disorders associated with mitochondrial DNA (mtDNA) variants presents substantial complexity due to their genetic and clinical heterogeneity, which is largely influenced by mtDNA heteroplasmy. However, the level of heteroplasmy alone is often not sufficient to predict the clinical phenotype including its severity and progression. This study concerns the characterization of the m.8357T > C variant in the MT-TK gene, encoding for mt-tRNA-Lys found in two pediatric siblings. Both had symptoms suggestive of a mitochondrial disease, including severe hearing loss, easy fatigability, decreased activity of mitochondrial complex I in muscle samples, epilepsy, metabolic acidosis with hyperkalemia, and mild kidney impairment. The m.8357T > C mtDNA variant was homoplasmic in muscle, blood, urine and fibroblasts. Immortalized fibroblasts from the patients showed reduced activity of mitochondrial complexes I, III and IV, decreased mitochondrial respiration, and abnormal depolarization of the mitochondrial membrane potential. The mt-tRNA-Lys levels were reduced as compared to the mt-tRNA-Leu (UUR) or the snRNA encoded by RNU6B nuclear gene; the level of three mitochondrial DNA encoded proteins was decreased, altogether suggesting a defective translation machinery in cells carrying the variant. Consistently, fibroblasts from the mother, who had only mild hearing loss, despite high level of heteroplasmy, showed some biochemical abnormalities, however milder than in her daughter and son. Contrariwise, their maternal aunt, who showed intellectual disability, mild hearing loss, easy fatigability and weakness was also virtually homoplasmic for the m.8357T > C in blood and urinary sediment cells. These findings suggest the pathogenicity of the m.8357T > C variant but only in condition of homoplasmy

    Acute overdosage of amiodarone in a suicide attempt.

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    Clinical and biochemical variables and blood levels of amiodarone and its metabolite are reported after acute self-intoxication in a young woman. Despite the huge amount of drug ingested no clinical side effects were documented over the monitored period of 3 months

    Devil’s Oak: Waking the Feminine Wound

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    Devil’s Oak: Waking the Feminine Wound is a short story collection that features strong female characters against a backdrop of ghosts, fairy tales, and urban legends. The thirteen stories subvert the historical narrative of women in fairy tales, positioning them as bold and willing to step into the face of danger. “The Braided Veil” features a young orphan in Victorian New Orleans who seeks revenge upon her mother’s abuser. “Devil’s Oak” addresses the horrors of slavery through the eyes of a young girl who learns that her family owned human beings. “Good Little Girls” takes readers back to childhood in which a sick girl explores her neighbor’s attic on a stormy day; she discovers more than she bargained for. “The Game” features relational aggression in the 1990’s in a “mean girls” style that takes a grizzly turn. “Selkie Skin” leans into Celtic lore, following a young pregnant girl who longs for freedom. “The Ripper Society” reaches back through time to Jack the Ripper’s wife, who discovers his misdeeds and takes matters into her own hands. “She Has Seen the Wolf” is longer story that connects to my novel, The Butterfly Circle; when a graduate student learns she is pregnant, she uncovers her family’s connected history to a haunted home for unwed mothers. In “Roots in the Cove,” a woman in an unhealthy relationship shapeshifts into a bear on a trip to Gatlinburg and finally finds her freedom. Both “Marsh Girl” and “Cicadas in the Suburbs” explore the psychological challenges of suburban life, including postpartum depression and the longing for the magic of youth. In “Honey Tree,” a divorced woman seeks comfort from the bees, and in “Crow Woman,” a widow faces metaphorical death and is reborn. Finally, “Ghost Apples” is a retelling of Snow White from the perspective of the queen; she shapeshifts into a wolf to protect a young girl who has been attacked and seeks revenge upon her abuser. ~A literary horror/fiction short story collection by Mary Carroll Leoson. Foreword by Christopher Barzak, author of A Voice Calling and One for Sorrow. Editor and jacket design by A.Miller. Available in PDF, Ebook (epub), paperback, and hardcover in October 2025.  --Publisher\u27s Note: Each story has been editor and press reviewed, and the entire book has been externally reviewed by experts in the field as part of the quality review process. Indexed in the Directory of Open Access Books (DOAB). Official press release.--   Reviews “What distinguishes Mary Carroll Leoson’s work is her ability to inhabit the liminal spaces between myth and reality, past and present, the seen and the unseen. These stories are rooted deeply in the soil of ancestral memory and the landscapes of the American South, yet they reach far beyond that geography into the universal territory of trauma, resilience, and transformation.”  --Christopher Barzak, author of One for Sorrow and A Voice Calling.   “Each story reads like an old heirloom passed from hand to hand, warm with use and heavy with meaning. The prose is lyrical but never ornamental; the horror, earned. And as the final page turns, it leaves you changed. Devil’s Oak: Waking the Feminine Wound isn’t just read. The stories linger like the smell of roses at a closed casket.”  --Diane Sismour, author of novels, short stories, and screenplays “I loved Marguerite in “Devil’s Oak,” her personality shone through, and I found myself rooting for her immediately. I loved seeing her rebel against expectations of femininity. Go, Marguerite!”  -- Janet Alcorn, author of award-winning short stories “Kate, Bea, and Nana from “She Has Seen the Wolf” are my favorite characters in this standout story of this Devil’s Oak collection; and I could easily see it adapted to television in some way.” --Ada Wofford, Sundress Publications   “My favorite character and story is Claire in “Marsh Girl,” plus “Good Little Girls” is especially chilling, and I enjoyed “The Ripper Society” so much, I was bereft at the end, hoping for more!” --Jasmine De La Paz, Gothic horror author  Book information Devil’s Oak: Waking the Feminine Wound © 2025 Mary Carroll Leoson Published by MT Open Press (Blue Crescent Books imprint) at Middle Tennessee State University, Murfreesboro   Identifiers ISBN (paperback) 979-8-9995864-0-7 ISBN (hardcover) 979-8-9871721-9-3 ISBN (digital PDF) 979-8-9871721-6-2 ISBN (digital epub) 979-8-9871721-7-9 DOI: https://doi.org/10.56638/mtopb00425   Distribution Print-on-demand version (epub, paperback, hardcover) available at https://www.lulu.com/spotlight/mtop    Follow and review on Goodreads: https://www.goodreads.com/book/show/239910520-devil-s-oak Suggested Citation  Leoson, Mary Carroll. Devil’s Oak: Waking the Feminine Wound. MT Open Press, Middle Tennessee State University, 2025. https://doi.org/10.56638/mtopb00425 This work is licensed under a Creative Commons Attribution-NonCommercial No Derivatives-4.0 International Licens

    Genetics in restless legs syndrome

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    Several studies on Restless leas syndrome (RLS) have suggested a substantial genetic contribution in the etiology of this sleep disorder. Clinical surveys of idiopathic RLS patients have shown that up to 60% report a positive family history. Investigations of single families with RLS have suggested an autosomal dominant mode of inheritance with variable expressivity, and some families show possible anticipation. At present, only one twin study is available, showing a high concordance rate (83.3%) between identical twins. Despite several reports suggesting a genetic contribution to the etiology of idiopathic RLS, few molecular genetic studies have been carried out attempting to identify genes that can predispose to this disorder. In particular, genes encoding for the GABA A receptor subunits, the gene for the alphal subunit of the glycine receptor, and genes involved in dopaminergic transmission and metabolism have been analyzed. but no significant findings have been reported. Genome-wide studies have been conducted to map genes that play a role in vulnerability to RLS. In a single French-Canadian family significant linkage was established on chromosome 12q. The susceptibility locus on chromosome 12q was not confirmed in two South Tyrolean families. or in our two Italian families. However, the efforts toward the identification of RLS genes must continue in order to obtain a better characterization of the syndrome and to identify new therapeutic strategies. (C) 2004 Elsevier B.V. All rights reserved

    Genetics in restless legs syndrome.

    No full text
    Several studies on Restless legs syndrome (RLS) have suggested a substantial genetic contribution in the etiology of this sleep disorder. Clinical surveys of idiopathic RLS patients have shown that up to 60% report a positive family history. Investigations of single families with RLS have suggested an autosomal dominant mode of inheritance with variable expressivity, and some families show possible anticipation. At present, only one twin study is available, showing a high concordance rate (83.3%) between identical twins. Despite several reports suggesting a genetic contribution to the etiology of idiopathic RLS, few molecular genetic studies have been carried out attempting to identify genes that can predispose to this disorder. In particular, genes encoding for the GABA A receptor subunits, the gene for the alpha1 subunit of the glycine receptor, and genes involved in dopaminergic transmission and metabolism have been analyzed, but no significant findings have been reported. Genome-wide studies have been conducted to map genes that play a role in vulnerability to RLS. In a single French–Canadian family significant linkage was established on chromosome 12q. The susceptibility locus on chromosome 12q was not confirmed in two South Tyrolean families, or in our two Italian families. However, the efforts toward the identification of RLS genes must continue in order to obtain a better characterization of the syndrome and to identify new therapeutic strategies

    Devil’s Oak: Waking the Feminine Wound

    No full text
    Devil’s Oak: Waking the Feminine Wound is a short story collection that features strong female characters against a backdrop of ghosts, fairy tales, and urban legends. The thirteen stories subvert the historical narrative of women in fairy tales, positioning them as bold and willing to step into the face of danger. “The Braided Veil” features a young orphan in Victorian New Orleans who seeks revenge upon her mother’s abuser. “Devil’s Oak” addresses the horrors of slavery through the eyes of a young girl who learns that her family owned human beings. “Good Little Girls” takes readers back to childhood in which a sick girl explores her neighbor’s attic on a stormy day; she discovers more than she bargained for. “The Game” features relational aggression in the 1990’s in a “mean girls” style that takes a grizzly turn. “Selkie Skin” leans into Celtic lore, following a young pregnant girl who longs for freedom. “The Ripper Society” reaches back through time to Jack the Ripper’s wife, who discovers his misdeeds and takes matters into her own hands. “She Has Seen the Wolf” is longer story that connects to my novel, The Butterfly Circle; when a graduate student learns she is pregnant, she uncovers her family’s connected history to a haunted home for unwed mothers. In “Roots in the Cove,” a woman in an unhealthy relationship shapeshifts into a bear on a trip to Gatlinburg and finally finds her freedom. Both “Marsh Girl” and “Cicadas in the Suburbs” explore the psychological challenges of suburban life, including postpartum depression and the longing for the magic of youth. In “Honey Tree,” a divorced woman seeks comfort from the bees, and in “Crow Woman,” a widow faces metaphorical death and is reborn. Finally, “Ghost Apples” is a retelling of Snow White from the perspective of the queen; she shapeshifts into a wolf to protect a young girl who has been attacked and seeks revenge upon her abuser. ~A literary horror/fiction short story collection by Mary Carroll Leoson. Foreword by Christopher Barzak, author of A Voice Calling and One for Sorrow. Editor and jacket design by A.Miller. Available in PDF, Ebook (epub), paperback, and hardcover in October 2025.  --Publisher\u27s Note: Each story has been editor and press reviewed, and the entire book has been externally reviewed by experts in the field as part of the quality review process. Indexed in the Directory of Open Access Books (DOAB). Official press release.--   Reviews “What distinguishes Mary Carroll Leoson’s work is her ability to inhabit the liminal spaces between myth and reality, past and present, the seen and the unseen. These stories are rooted deeply in the soil of ancestral memory and the landscapes of the American South, yet they reach far beyond that geography into the universal territory of trauma, resilience, and transformation.”  --Christopher Barzak, author of One for Sorrow and A Voice Calling.   “Each story reads like an old heirloom passed from hand to hand, warm with use and heavy with meaning. The prose is lyrical but never ornamental; the horror, earned. And as the final page turns, it leaves you changed. Devil’s Oak: Waking the Feminine Wound isn’t just read. The stories linger like the smell of roses at a closed casket.”  --Diane Sismour, author of novels, short stories, and screenplays “I loved Marguerite in “Devil’s Oak,” her personality shone through, and I found myself rooting for her immediately. I loved seeing her rebel against expectations of femininity. Go, Marguerite!”  -- Janet Alcorn, author of award-winning short stories “Kate, Bea, and Nana from “She Has Seen the Wolf” are my favorite characters in this standout story of this Devil’s Oak collection; and I could easily see it adapted to television in some way.” --Ada Wofford, Sundress Publications   “My favorite character and story is Claire in “Marsh Girl,” plus “Good Little Girls” is especially chilling, and I enjoyed “The Ripper Society” so much, I was bereft at the end, hoping for more!” --Jasmine De La Paz, Gothic horror author  Book information Devil’s Oak: Waking the Feminine Wound © 2025 Mary Carroll Leoson Published by MT Open Press (Blue Crescent Books imprint) at Middle Tennessee State University, Murfreesboro   Identifiers ISBN (paperback) 979-8-9995864-0-7 ISBN (hardcover) 979-8-9871721-9-3 ISBN (digital PDF) 979-8-9871721-6-2 ISBN (digital epub) 979-8-9871721-7-9 DOI: https://doi.org/10.56638/mtopb00425   Distribution Print-on-demand version (epub, paperback, hardcover) available at https://www.lulu.com/spotlight/mtop    Follow and review on Goodreads: https://www.goodreads.com/book/show/239910520-devil-s-oak Suggested Citation  Leoson, Mary Carroll. Devil’s Oak: Waking the Feminine Wound. MT Open Press, Middle Tennessee State University, 2025. https://doi.org/10.56638/mtopb00425 This work is licensed under a Creative Commons Attribution-NonCommercial No Derivatives-4.0 International Licens

    Devil’s Oak: Waking the Feminine Wound

    No full text
    Devil’s Oak: Waking the Feminine Wound is a short story collection that features strong female characters against a backdrop of ghosts, fairy tales, and urban legends. The thirteen stories subvert the historical narrative of women in fairy tales, positioning them as bold and willing to step into the face of danger. “The Braided Veil” features a young orphan in Victorian New Orleans who seeks revenge upon her mother’s abuser. “Devil’s Oak” addresses the horrors of slavery through the eyes of a young girl who learns that her family owned human beings. “Good Little Girls” takes readers back to childhood in which a sick girl explores her neighbor’s attic on a stormy day; she discovers more than she bargained for. “The Game” features relational aggression in the 1990’s in a “mean girls” style that takes a grizzly turn. “Selkie Skin” leans into Celtic lore, following a young pregnant girl who longs for freedom. “The Ripper Society” reaches back through time to Jack the Ripper’s wife, who discovers his misdeeds and takes matters into her own hands. “She Has Seen the Wolf” is longer story that connects to my novel, The Butterfly Circle; when a graduate student learns she is pregnant, she uncovers her family’s connected history to a haunted home for unwed mothers. In “Roots in the Cove,” a woman in an unhealthy relationship shapeshifts into a bear on a trip to Gatlinburg and finally finds her freedom. Both “Marsh Girl” and “Cicadas in the Suburbs” explore the psychological challenges of suburban life, including postpartum depression and the longing for the magic of youth. In “Honey Tree,” a divorced woman seeks comfort from the bees, and in “Crow Woman,” a widow faces metaphorical death and is reborn. Finally, “Ghost Apples” is a retelling of Snow White from the perspective of the queen; she shapeshifts into a wolf to protect a young girl who has been attacked and seeks revenge upon her abuser. ~A literary horror/fiction short story collection by Mary Carroll Leoson. Foreword by Christopher Barzak, author of A Voice Calling and One for Sorrow. Editor and jacket design by A.Miller. Available in PDF, Ebook (epub), paperback, and hardcover in October 2025.  --Publisher\u27s Note: Each story has been editor and press reviewed, and the entire book has been externally reviewed by experts in the field as part of the quality review process. Indexed in the Directory of Open Access Books (DOAB). Official press release.--   Reviews “What distinguishes Mary Carroll Leoson’s work is her ability to inhabit the liminal spaces between myth and reality, past and present, the seen and the unseen. These stories are rooted deeply in the soil of ancestral memory and the landscapes of the American South, yet they reach far beyond that geography into the universal territory of trauma, resilience, and transformation.”  --Christopher Barzak, author of One for Sorrow and A Voice Calling.   “Each story reads like an old heirloom passed from hand to hand, warm with use and heavy with meaning. The prose is lyrical but never ornamental; the horror, earned. And as the final page turns, it leaves you changed. Devil’s Oak: Waking the Feminine Wound isn’t just read. The stories linger like the smell of roses at a closed casket.”  --Diane Sismour, author of novels, short stories, and screenplays “I loved Marguerite in “Devil’s Oak,” her personality shone through, and I found myself rooting for her immediately. I loved seeing her rebel against expectations of femininity. Go, Marguerite!”  -- Janet Alcorn, author of award-winning short stories “Kate, Bea, and Nana from “She Has Seen the Wolf” are my favorite characters in this standout story of this Devil’s Oak collection; and I could easily see it adapted to television in some way.” --Ada Wofford, Sundress Publications   “My favorite character and story is Claire in “Marsh Girl,” plus “Good Little Girls” is especially chilling, and I enjoyed “The Ripper Society” so much, I was bereft at the end, hoping for more!” --Jasmine De La Paz, Gothic horror author  Book information Devil’s Oak: Waking the Feminine Wound © 2025 Mary Carroll Leoson Published by MT Open Press (Blue Crescent Books imprint) at Middle Tennessee State University, Murfreesboro   Identifiers ISBN (paperback) 979-8-9995864-0-7 ISBN (hardcover) 979-8-9871721-9-3 ISBN (digital PDF) 979-8-9871721-6-2 ISBN (digital epub) 979-8-9871721-7-9 DOI: https://doi.org/10.56638/mtopb00425   Distribution Print-on-demand version (epub, paperback, hardcover) available at https://www.lulu.com/spotlight/mtop    Follow and review on Goodreads: https://www.goodreads.com/book/show/239910520-devil-s-oak Suggested Citation  Leoson, Mary Carroll. Devil’s Oak: Waking the Feminine Wound. MT Open Press, Middle Tennessee State University, 2025. https://doi.org/10.56638/mtopb00425 This work is licensed under a Creative Commons Attribution-NonCommercial No Derivatives-4.0 International Licens

    Devil’s Oak: Waking the Feminine Wound

    No full text
    Devil’s Oak: Waking the Feminine Wound is a short story collection that features strong female characters against a backdrop of ghosts, fairy tales, and urban legends. The thirteen stories subvert the historical narrative of women in fairy tales, positioning them as bold and willing to step into the face of danger. “The Braided Veil” features a young orphan in Victorian New Orleans who seeks revenge upon her mother’s abuser. “Devil’s Oak” addresses the horrors of slavery through the eyes of a young girl who learns that her family owned human beings. “Good Little Girls” takes readers back to childhood in which a sick girl explores her neighbor’s attic on a stormy day; she discovers more than she bargained for. “The Game” features relational aggression in the 1990’s in a “mean girls” style that takes a grizzly turn. “Selkie Skin” leans into Celtic lore, following a young pregnant girl who longs for freedom. “The Ripper Society” reaches back through time to Jack the Ripper’s wife, who discovers his misdeeds and takes matters into her own hands. “She Has Seen the Wolf” is longer story that connects to my novel, The Butterfly Circle; when a graduate student learns she is pregnant, she uncovers her family’s connected history to a haunted home for unwed mothers. In “Roots in the Cove,” a woman in an unhealthy relationship shapeshifts into a bear on a trip to Gatlinburg and finally finds her freedom. Both “Marsh Girl” and “Cicadas in the Suburbs” explore the psychological challenges of suburban life, including postpartum depression and the longing for the magic of youth. In “Honey Tree,” a divorced woman seeks comfort from the bees, and in “Crow Woman,” a widow faces metaphorical death and is reborn. Finally, “Ghost Apples” is a retelling of Snow White from the perspective of the queen; she shapeshifts into a wolf to protect a young girl who has been attacked and seeks revenge upon her abuser. ~A literary horror/fiction short story collection by Mary Carroll Leoson. Foreword by Christopher Barzak, author of A Voice Calling and One for Sorrow. Editor and jacket design by A.Miller. Available in PDF, Ebook (epub), paperback, and hardcover in October 2025.  --Publisher\u27s Note: Each story has been editor and press reviewed, and the entire book has been externally reviewed by experts in the field as part of the quality review process. Indexed in the Directory of Open Access Books (DOAB). Official press release.--   Reviews “What distinguishes Mary Carroll Leoson’s work is her ability to inhabit the liminal spaces between myth and reality, past and present, the seen and the unseen. These stories are rooted deeply in the soil of ancestral memory and the landscapes of the American South, yet they reach far beyond that geography into the universal territory of trauma, resilience, and transformation.”  --Christopher Barzak, author of One for Sorrow and A Voice Calling.   “Each story reads like an old heirloom passed from hand to hand, warm with use and heavy with meaning. The prose is lyrical but never ornamental; the horror, earned. And as the final page turns, it leaves you changed. Devil’s Oak: Waking the Feminine Wound isn’t just read. The stories linger like the smell of roses at a closed casket.”  --Diane Sismour, author of novels, short stories, and screenplays “I loved Marguerite in “Devil’s Oak,” her personality shone through, and I found myself rooting for her immediately. I loved seeing her rebel against expectations of femininity. Go, Marguerite!”  -- Janet Alcorn, author of award-winning short stories “Kate, Bea, and Nana from “She Has Seen the Wolf” are my favorite characters in this standout story of this Devil’s Oak collection; and I could easily see it adapted to television in some way.” --Ada Wofford, Sundress Publications   “My favorite character and story is Claire in “Marsh Girl,” plus “Good Little Girls” is especially chilling, and I enjoyed “The Ripper Society” so much, I was bereft at the end, hoping for more!” --Jasmine De La Paz, Gothic horror author  Book information Devil’s Oak: Waking the Feminine Wound © 2025 Mary Carroll Leoson Published by MT Open Press (Blue Crescent Books imprint) at Middle Tennessee State University, Murfreesboro   Identifiers ISBN (paperback) 979-8-9995864-0-7 ISBN (hardcover) 979-8-9871721-9-3 ISBN (digital PDF) 979-8-9871721-6-2 ISBN (digital epub) 979-8-9871721-7-9 DOI: https://doi.org/10.56638/mtopb00425   Distribution Print-on-demand version (epub, paperback, hardcover) available at https://www.lulu.com/spotlight/mtop    Follow and review on Goodreads: https://www.goodreads.com/book/show/239910520-devil-s-oak Suggested Citation  Leoson, Mary Carroll. Devil’s Oak: Waking the Feminine Wound. MT Open Press, Middle Tennessee State University, 2025. https://doi.org/10.56638/mtopb00425 This work is licensed under a Creative Commons Attribution-NonCommercial No Derivatives-4.0 International Licens

    Last/zakkingsgedrag van MT-palen

    No full text
    In delen van Nederland bestaan de bovenste grondlagen uit samendrukbare grond, zoals klei en veen. Door het gebruik van paalfunderingen kunnen belastingen, afkomstig van constructies en gebouwen, naar diepere meer draagkrachtige lagen worden afgedragen. Door hedendaagse innovatieve ontwikkelingen in de bouw worden funderingspalen met een diameter van één meter en groter toegepast om paalbelastingen boven 10.000 kN op te nemen. Voor de uitbreiding van het Ibis hotel, gelegen aan de westkant van het Amsterdam Centraal station wordt een nieuw paalsysteem, genaamd de MT-paal, gebruikt om de hoge belastingen af te dragen. De keuze voor het gebruik van de MT-paal is mede bepaald door de beperkte beschikbare ruimte en het vereiste trillingsvrije installatieproces. Tijdens de belastingsfase zal de MT-paal vervormingen vertonen, het last/zakkingsgedrag. Hoe de MT-paal zich zal gedragen tijdens het belasten is vooralsnog niet bekend. In gangbare normen zijn geen standaard paalfactoren beschikbaar voor nieuwe paalsystemen, waaronder de MT-paal. Ook is voor de MT-paal geen proefbelasting uitgevoerd, die het gedrag van deze funderingspaal tijdens het belasten kan vaststellen. Het ontwikkelen van een standaard rekenmethodiek om het last/zakkingsgedrag van de MT-paal te bepalen, is de hoofddoelstelling van dit afstudeeronderzoek. Voor een goede benadering van het last/zakkingsgedrag van de MT-paal zijn twee belangrijke aspecten, namelijk de paalpunt en de paalschacht, geanalyseerd. Eerst is het uitvoeringsproces van de MT-paal vergeleken met de boorpaal. Vervolgens zijn zowel de MT-paal als de boorpaal in PLAXIS gemodelleerd en is het last/zakkingsgedrag van beide palen met elkaar vergeleken.Geo-engineeringGeotechnologyCivil Engineering and Geoscience
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