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Patent embryonic structure

MedGen UID:
568713
•Concept ID:
C0332915
•
Congenital Abnormality
SNOMED CT: Patent embryonic structure (396351009)

Definition

congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. [from CRISP]

Professional guidelines

PubMed

Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy.
Viotti M, Greco E, Grifo JA, Madjunkov M, Librach C, Cetinkaya M, Kahraman S, Yakovlev P, Kornilov N, Corti L, Biricik A, Cheng EH, Su CY, Lee MS, Bonifacio MD, Cooper AR, Griffin DK, Tran DY, Kaur P, Barnes FL, Zouves CG, Victor AR, Besser AG, Madjunkova S, Spinella F
Fertil Steril 2023 Nov;120(5):957-966. Epub 2023 Jul 31 doi: 10.1016/j.fertnstert.2023.07.022. PMID: 37532168
An Embryonic Diapause-like Adaptation with Suppressed Myc Activity Enables Tumor Treatment Persistence.
Dhimolea E, de Matos Simoes R, Kansara D, Al'Khafaji A, Bouyssou J, Weng X, Sharma S, Raja J, Awate P, Shirasaki R, Tang H, Glassner BJ, Liu Z, Gao D, Bryan J, Bender S, Roth J, Scheffer M, Jeselsohn R, Gray NS, Georgakoudi I, Vazquez F, Tsherniak A, Chen Y, Welm A, Duy C, Melnick A, Bartholdy B, Brown M, Culhane AC, Mitsiades CS
Cancer Cell 2021 Feb 8;39(2):240-256.e11. Epub 2021 Jan 7 doi: 10.1016/j.ccell.2020.12.002. PMID: 33417832Free PMC Article
Understanding the Pathophysiology, Implications, and Treatment Options of Patent Ductus Arteriosus in the Neonatal Population.
Conrad C, Newberry D
Adv Neonatal Care 2019 Jun;19(3):179-187. doi: 10.1097/ANC.0000000000000590. PMID: 30720481

Recent clinical studies

Etiology

Air pollution and pregnancy.
Aguilera J, Konvinse K, Lee A, Maecker H, Prunicki M, Mahalingaiah S, Sampath V, Utz PJ, Yang E, Nadeau KC
Semin Perinatol 2023 Dec;47(8):151838. Epub 2023 Oct 10 doi: 10.1016/j.semperi.2023.151838. PMID: 37858459Free PMC Article
Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy.
Viotti M, Greco E, Grifo JA, Madjunkov M, Librach C, Cetinkaya M, Kahraman S, Yakovlev P, Kornilov N, Corti L, Biricik A, Cheng EH, Su CY, Lee MS, Bonifacio MD, Cooper AR, Griffin DK, Tran DY, Kaur P, Barnes FL, Zouves CG, Victor AR, Besser AG, Madjunkova S, Spinella F
Fertil Steril 2023 Nov;120(5):957-966. Epub 2023 Jul 31 doi: 10.1016/j.fertnstert.2023.07.022. PMID: 37532168
Principles of signaling pathway modulation for enhancing human naive pluripotency induction.
Bayerl J, Ayyash M, Shani T, Manor YS, Gafni O, Massarwa R, Kalma Y, Aguilera-Castrejon A, Zerbib M, Amir H, Sheban D, Geula S, Mor N, Weinberger L, Naveh Tassa S, Krupalnik V, Oldak B, Livnat N, Tarazi S, Tawil S, Wildschutz E, Ashouokhi S, Lasman L, Rotter V, Hanna S, Ben-Yosef D, Novershtern N, Viukov S, Hanna JH
Cell Stem Cell 2021 Sep 2;28(9):1549-1565.e12. Epub 2021 Apr 28 doi: 10.1016/j.stem.2021.04.001. PMID: 33915080Free PMC Article
Delayed vs early umbilical cord clamping for preterm infants: a systematic review and meta-analysis.
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM
JAMA 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635Free PMC Article

Diagnosis

Mapping of mitogen and metabolic sensitivity in organoids defines requirements for human hepatocyte growth.
Hendriks D, Artegiani B, Margaritis T, Zoutendijk I, Chuva de Sousa Lopes S, Clevers H
Nat Commun 2024 May 13;15(1):4034. doi: 10.1038/s41467-024-48550-4. PMID: 38740814Free PMC Article
Clinical tools and biomarkers to predict preeclampsia.
MacDonald TM, Walker SP, Hannan NJ, Tong S, Kaitu'u-Lino TJ
EBioMedicine 2022 Jan;75:103780. Epub 2021 Dec 23 doi: 10.1016/j.ebiom.2021.103780. PMID: 34954654Free PMC Article
Imaging of urachal anomalies.
Buddha S, Menias CO, Katabathina VS
Abdom Radiol (NY) 2019 Dec;44(12):3978-3989. doi: 10.1007/s00261-019-02205-x. PMID: 31478084
Third-generation in situ hybridization chain reaction: multiplexed, quantitative, sensitive, versatile, robust.
Choi HMT, Schwarzkopf M, Fornace ME, Acharya A, Artavanis G, Stegmaier J, Cunha A, Pierce NA
Development 2018 Jun 26;145(12) doi: 10.1242/dev.165753. PMID: 29945988Free PMC Article
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM
JAMA 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635Free PMC Article

Therapy

Air pollution and pregnancy.
Aguilera J, Konvinse K, Lee A, Maecker H, Prunicki M, Mahalingaiah S, Sampath V, Utz PJ, Yang E, Nadeau KC
Semin Perinatol 2023 Dec;47(8):151838. Epub 2023 Oct 10 doi: 10.1016/j.semperi.2023.151838. PMID: 37858459Free PMC Article
Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy.
Viotti M, Greco E, Grifo JA, Madjunkov M, Librach C, Cetinkaya M, Kahraman S, Yakovlev P, Kornilov N, Corti L, Biricik A, Cheng EH, Su CY, Lee MS, Bonifacio MD, Cooper AR, Griffin DK, Tran DY, Kaur P, Barnes FL, Zouves CG, Victor AR, Besser AG, Madjunkova S, Spinella F
Fertil Steril 2023 Nov;120(5):957-966. Epub 2023 Jul 31 doi: 10.1016/j.fertnstert.2023.07.022. PMID: 37532168
Implanted pluripotent stem-cell-derived pancreatic endoderm cells secrete glucose-responsive C-peptide in patients with type 1 diabetes.
Ramzy A, Thompson DM, Ward-Hartstonge KA, Ivison S, Cook L, Garcia RV, Loyal J, Kim PTW, Warnock GL, Levings MK, Kieffer TJ
Cell Stem Cell 2021 Dec 2;28(12):2047-2061.e5. doi: 10.1016/j.stem.2021.10.003. PMID: 34861146
Delayed vs early umbilical cord clamping for preterm infants: a systematic review and meta-analysis.
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178
Epigenetic resetting of human pluripotency.
Guo G, von Meyenn F, Rostovskaya M, Clarke J, Dietmann S, Baker D, Sahakyan A, Myers S, Bertone P, Reik W, Plath K, Smith A
Development 2017 Aug 1;144(15):2748-2763. doi: 10.1242/dev.146811. PMID: 28765214Free PMC Article

Prognosis

Global age-sex-specific mortality, life expectancy, and population estimates in 204 countries and territories and 811 subnational locations, 1950-2021, and the impact of the COVID-19 pandemic: a comprehensive demographic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Demographics Collaborators
Lancet 2024 May 18;403(10440):1989-2056. Epub 2024 Mar 11 doi: 10.1016/S0140-6736(24)00476-8. PMID: 38484753Free PMC Article
Clinical tools and biomarkers to predict preeclampsia.
MacDonald TM, Walker SP, Hannan NJ, Tong S, Kaitu'u-Lino TJ
EBioMedicine 2022 Jan;75:103780. Epub 2021 Dec 23 doi: 10.1016/j.ebiom.2021.103780. PMID: 34954654Free PMC Article
Investigating immune and non-immune cell interactions in head and neck tumors by single-cell RNA sequencing.
Kürten CHL, Kulkarni A, Cillo AR, Santos PM, Roble AK, Onkar S, Reeder C, Lang S, Chen X, Duvvuri U, Kim S, Liu A, Tabib T, Lafyatis R, Feng J, Gao SJ, Bruno TC, Vignali DAA, Lu X, Bao R, Vujanovic L, Ferris RL
Nat Commun 2021 Dec 17;12(1):7338. doi: 10.1038/s41467-021-27619-4. PMID: 34921143Free PMC Article
Metabolic Dynamics and Prediction of Gestational Age and Time to Delivery in Pregnant Women.
Liang L, Rasmussen MH, Piening B, Shen X, Chen S, Röst H, Snyder JK, Tibshirani R, Skotte L, Lee NC, Contrepois K, Feenstra B, Zackriah H, Snyder M, Melbye M
Cell 2020 Jun 25;181(7):1680-1692.e15. doi: 10.1016/j.cell.2020.05.002. PMID: 32589958Free PMC Article
Delayed vs early umbilical cord clamping for preterm infants: a systematic review and meta-analysis.
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178

Clinical prediction guides

Clinical tools and biomarkers to predict preeclampsia.
MacDonald TM, Walker SP, Hannan NJ, Tong S, Kaitu'u-Lino TJ
EBioMedicine 2022 Jan;75:103780. Epub 2021 Dec 23 doi: 10.1016/j.ebiom.2021.103780. PMID: 34954654Free PMC Article
Human blastoids model blastocyst development and implantation.
Kagawa H, Javali A, Khoei HH, Sommer TM, Sestini G, Novatchkova M, Scholte Op Reimer Y, Castel G, Bruneau A, Maenhoudt N, Lammers J, Loubersac S, Freour T, Vankelecom H, David L, Rivron N
Nature 2022 Jan;601(7894):600-605. Epub 2021 Dec 2 doi: 10.1038/s41586-021-04267-8. PMID: 34856602Free PMC Article
Investigating immune and non-immune cell interactions in head and neck tumors by single-cell RNA sequencing.
Kürten CHL, Kulkarni A, Cillo AR, Santos PM, Roble AK, Onkar S, Reeder C, Lang S, Chen X, Duvvuri U, Kim S, Liu A, Tabib T, Lafyatis R, Feng J, Gao SJ, Bruno TC, Vignali DAA, Lu X, Bao R, Vujanovic L, Ferris RL
Nat Commun 2021 Dec 17;12(1):7338. doi: 10.1038/s41467-021-27619-4. PMID: 34921143Free PMC Article
Metabolic Dynamics and Prediction of Gestational Age and Time to Delivery in Pregnant Women.
Liang L, Rasmussen MH, Piening B, Shen X, Chen S, Röst H, Snyder JK, Tibshirani R, Skotte L, Lee NC, Contrepois K, Feenstra B, Zackriah H, Snyder M, Melbye M
Cell 2020 Jun 25;181(7):1680-1692.e15. doi: 10.1016/j.cell.2020.05.002. PMID: 32589958Free PMC Article
Hair-bearing human skin generated entirely from pluripotent stem cells.
Lee J, Rabbani CC, Gao H, Steinhart MR, Woodruff BM, Pflum ZE, Kim A, Heller S, Liu Y, Shipchandler TZ, Koehler KR
Nature 2020 Jun;582(7812):399-404. Epub 2020 Jun 3 doi: 10.1038/s41586-020-2352-3. PMID: 32494013Free PMC Article

Recent systematic reviews

Interventions affecting the nitric oxide pathway versus placebo or no therapy for fetal growth restriction in pregnancy.
Pels A, Ganzevoort W, Kenny LC, Baker PN, von Dadelszen P, Gluud C, Kariya CT, Leemhuis AG, Groom KM, Sharp AN, Magee LA, Jakobsen JC, Mol BWJ, Papageorghiou AT
Cochrane Database Syst Rev 2023 Jul 10;7(7):CD014498. doi: 10.1002/14651858.CD014498. PMID: 37428872Free PMC Article
Short-term efficacy of umbilical cord milking in preterm infants: systematic review and meta-analysis.
Barboza JJ, Albitres-Flores L, Rivera-Meza M, Rodriguez-Huapaya J, Caballero-Alvarado J, Pasupuleti V, Hernandez AV
Pediatr Res 2021 Jan;89(1):22-30. Epub 2020 Apr 21 doi: 10.1038/s41390-020-0902-x. PMID: 32316030
Pregnancy outcomes and risk of placental malaria after artemisinin-based and quinine-based treatment for uncomplicated falciparum malaria in pregnancy: a WorldWide Antimalarial Resistance Network systematic review and individual patient data meta-analysis.
Saito M, Mansoor R, Kennon K, Anvikar AR, Ashley EA, Chandramohan D, Cohee LM, D'Alessandro U, Genton B, Gilder ME, Juma E, Kalilani-Phiri L, Kuepfer I, Laufer MK, Lwin KM, Meshnick SR, Mosha D, Muehlenbachs A, Mwapasa V, Mwebaza N, Nambozi M, Ndiaye JA, Nosten F, Nyunt M, Ogutu B, Parikh S, Paw MK, Phyo AP, Pimanpanarak M, Piola P, Rijken MJ, Sriprawat K, Tagbor HK, Tarning J, Tinto H, Valéa I, Valecha N, White NJ, Wiladphaingern J, Stepniewska K, McGready R, Guérin PJ
BMC Med 2020 Jun 2;18(1):138. doi: 10.1186/s12916-020-01592-z. PMID: 32482173Free PMC Article
Delayed vs early umbilical cord clamping for preterm infants: a systematic review and meta-analysis.
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178
Animal derived surfactant extract for treatment of respiratory distress syndrome.
Seger N, Soll R
Cochrane Database Syst Rev 2009 Apr 15;(2):CD007836. doi: 10.1002/14651858.CD007836. PMID: 19370695

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