4,985 research outputs found

    Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

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    Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke-like episodes (MELAS) and Leigh syndrome (LS). We here describe the first case in which the m.4171C>A/MT-ND1 mutation, previously reported only in association with LHON, leads also to a Leigh-like phenotype. Case presentation: A 16-year-old male suffered subacute visual loss and recurrent vomiting and vertigo associated with bilateral brainstem lesions affecting the vestibular nuclei. His mother and one sister also presented subacute visual loss compatible with LHON. Sequencing of the entire mtDNA revealed the homoplasmic m.4171C>A/MT-ND1 mutation, previously associated with pure LHON, on a haplogroup H background. Three additional non-synonymous homoplasmic transitions affecting ND2 (m.4705T>C/MT-ND2 and m.5263C>T/MT-ND2) and ND6 (m.14180T>C/MT-ND6) subunits, well recognized as polymorphisms in other mtDNA haplogroups but never found on the haplogroup H background, were also present. Conclusion: This case widens the phenotypic expression of the rare m.4171C>A/MT-ND1 LHON mutation, which may also lead to Leigh-like brainstem lesions, and indicates that the co-occurrence of other ND non-synonymous variants, found outside of their usual mtDNA backgrounds, may have increased the pathogenic potential of the primary LHON mutation

    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

    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
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