Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report
Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with...
Ausführliche Beschreibung
Autor*in: |
Takeshi Nagao [verfasserIn] Momoko Inoue [verfasserIn] Yuki Ito [verfasserIn] Takashi Kunihara [verfasserIn] Hiroshi Kawame [verfasserIn] Osamu Samura [verfasserIn] Aikou Okamoto [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2024 |
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Übergeordnetes Werk: |
In: Taiwanese Journal of Obstetrics & Gynecology - Elsevier, 2017, 63(2024), 2, Seite 225-228 |
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Übergeordnetes Werk: |
volume:63 ; year:2024 ; number:2 ; pages:225-228 |
Links: |
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DOI / URN: |
10.1016/j.tjog.2024.01.018 |
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Katalog-ID: |
DOAJ098567845 |
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520 | |a Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. | ||
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10.1016/j.tjog.2024.01.018 doi (DE-627)DOAJ098567845 (DE-599)DOAJd31e048426684d0a95072497bb9a09fc DE-627 ger DE-627 rakwb eng RG1-991 Takeshi Nagao verfasserin aut Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. Aortic dissection Loeys-Dietz syndrome Pregnancy SMAD3 Vertebral artery tortuosity Gynecology and obstetrics Momoko Inoue verfasserin aut Yuki Ito verfasserin aut Takashi Kunihara verfasserin aut Hiroshi Kawame verfasserin aut Osamu Samura verfasserin aut Aikou Okamoto verfasserin aut In Taiwanese Journal of Obstetrics & Gynecology Elsevier, 2017 63(2024), 2, Seite 225-228 (DE-627)500021422 (DE-600)2202946-1 10284559 nnns volume:63 year:2024 number:2 pages:225-228 https://doi.org/10.1016/j.tjog.2024.01.018 kostenfrei https://doaj.org/article/d31e048426684d0a95072497bb9a09fc kostenfrei http://www.sciencedirect.com/science/article/pii/S1028455924000354 kostenfrei https://doaj.org/toc/1028-4559 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_647 GBV_ILN_2014 GBV_ILN_2068 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 63 2024 2 225-228 |
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10.1016/j.tjog.2024.01.018 doi (DE-627)DOAJ098567845 (DE-599)DOAJd31e048426684d0a95072497bb9a09fc DE-627 ger DE-627 rakwb eng RG1-991 Takeshi Nagao verfasserin aut Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. Aortic dissection Loeys-Dietz syndrome Pregnancy SMAD3 Vertebral artery tortuosity Gynecology and obstetrics Momoko Inoue verfasserin aut Yuki Ito verfasserin aut Takashi Kunihara verfasserin aut Hiroshi Kawame verfasserin aut Osamu Samura verfasserin aut Aikou Okamoto verfasserin aut In Taiwanese Journal of Obstetrics & Gynecology Elsevier, 2017 63(2024), 2, Seite 225-228 (DE-627)500021422 (DE-600)2202946-1 10284559 nnns volume:63 year:2024 number:2 pages:225-228 https://doi.org/10.1016/j.tjog.2024.01.018 kostenfrei https://doaj.org/article/d31e048426684d0a95072497bb9a09fc kostenfrei http://www.sciencedirect.com/science/article/pii/S1028455924000354 kostenfrei https://doaj.org/toc/1028-4559 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_647 GBV_ILN_2014 GBV_ILN_2068 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 63 2024 2 225-228 |
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10.1016/j.tjog.2024.01.018 doi (DE-627)DOAJ098567845 (DE-599)DOAJd31e048426684d0a95072497bb9a09fc DE-627 ger DE-627 rakwb eng RG1-991 Takeshi Nagao verfasserin aut Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. Aortic dissection Loeys-Dietz syndrome Pregnancy SMAD3 Vertebral artery tortuosity Gynecology and obstetrics Momoko Inoue verfasserin aut Yuki Ito verfasserin aut Takashi Kunihara verfasserin aut Hiroshi Kawame verfasserin aut Osamu Samura verfasserin aut Aikou Okamoto verfasserin aut In Taiwanese Journal of Obstetrics & Gynecology Elsevier, 2017 63(2024), 2, Seite 225-228 (DE-627)500021422 (DE-600)2202946-1 10284559 nnns volume:63 year:2024 number:2 pages:225-228 https://doi.org/10.1016/j.tjog.2024.01.018 kostenfrei https://doaj.org/article/d31e048426684d0a95072497bb9a09fc kostenfrei http://www.sciencedirect.com/science/article/pii/S1028455924000354 kostenfrei https://doaj.org/toc/1028-4559 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_647 GBV_ILN_2014 GBV_ILN_2068 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 63 2024 2 225-228 |
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10.1016/j.tjog.2024.01.018 doi (DE-627)DOAJ098567845 (DE-599)DOAJd31e048426684d0a95072497bb9a09fc DE-627 ger DE-627 rakwb eng RG1-991 Takeshi Nagao verfasserin aut Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. Aortic dissection Loeys-Dietz syndrome Pregnancy SMAD3 Vertebral artery tortuosity Gynecology and obstetrics Momoko Inoue verfasserin aut Yuki Ito verfasserin aut Takashi Kunihara verfasserin aut Hiroshi Kawame verfasserin aut Osamu Samura verfasserin aut Aikou Okamoto verfasserin aut In Taiwanese Journal of Obstetrics & Gynecology Elsevier, 2017 63(2024), 2, Seite 225-228 (DE-627)500021422 (DE-600)2202946-1 10284559 nnns volume:63 year:2024 number:2 pages:225-228 https://doi.org/10.1016/j.tjog.2024.01.018 kostenfrei https://doaj.org/article/d31e048426684d0a95072497bb9a09fc kostenfrei http://www.sciencedirect.com/science/article/pii/S1028455924000354 kostenfrei https://doaj.org/toc/1028-4559 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_647 GBV_ILN_2014 GBV_ILN_2068 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 63 2024 2 225-228 |
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10.1016/j.tjog.2024.01.018 doi (DE-627)DOAJ098567845 (DE-599)DOAJd31e048426684d0a95072497bb9a09fc DE-627 ger DE-627 rakwb eng RG1-991 Takeshi Nagao verfasserin aut Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. Aortic dissection Loeys-Dietz syndrome Pregnancy SMAD3 Vertebral artery tortuosity Gynecology and obstetrics Momoko Inoue verfasserin aut Yuki Ito verfasserin aut Takashi Kunihara verfasserin aut Hiroshi Kawame verfasserin aut Osamu Samura verfasserin aut Aikou Okamoto verfasserin aut In Taiwanese Journal of Obstetrics & Gynecology Elsevier, 2017 63(2024), 2, Seite 225-228 (DE-627)500021422 (DE-600)2202946-1 10284559 nnns volume:63 year:2024 number:2 pages:225-228 https://doi.org/10.1016/j.tjog.2024.01.018 kostenfrei https://doaj.org/article/d31e048426684d0a95072497bb9a09fc kostenfrei http://www.sciencedirect.com/science/article/pii/S1028455924000354 kostenfrei https://doaj.org/toc/1028-4559 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_647 GBV_ILN_2014 GBV_ILN_2068 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 63 2024 2 225-228 |
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Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report |
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Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. |
abstractGer |
Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. |
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Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms. |
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