Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing
Spontaneous intestinal perforation, although rare, involves high morbidity and mortality in neonates. The etiology of the condition is to this day largely unknown. Here, we present a case of monochorionic preterm twins with synchronized spontaneous intestinal perforation, and the results from whole-...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-01-01
|
| Series: | Journal of Pediatric Surgery Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213576621003444 |
| _version_ | 1819099722252550144 |
|---|---|
| author | Nikolai Juul Oliver Willacy Mathilde Maagaard Tina Olsen Jakob Ek Inge Ifaoui Magdalena Fossum |
| author_facet | Nikolai Juul Oliver Willacy Mathilde Maagaard Tina Olsen Jakob Ek Inge Ifaoui Magdalena Fossum |
| author_sort | Nikolai Juul |
| collection | DOAJ |
| description | Spontaneous intestinal perforation, although rare, involves high morbidity and mortality in neonates. The etiology of the condition is to this day largely unknown. Here, we present a case of monochorionic preterm twins with synchronized spontaneous intestinal perforation, and the results from whole-genome sequencing to assess possible associations to known genetic diseases. We also discuss other publications related to the etiology of spontaneous intestinal performation or necrotizing enterocolitis in newborn premature children. |
| first_indexed | 2024-12-22T00:51:24Z |
| format | Article |
| id | doaj.art-defbf69d892d40c7b85dee20472f14e8 |
| institution | Directory Open Access Journal |
| issn | 2213-5766 |
| language | English |
| last_indexed | 2024-12-22T00:51:24Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Pediatric Surgery Case Reports |
| spelling | doaj.art-defbf69d892d40c7b85dee20472f14e82022-12-21T18:44:25ZengElsevierJournal of Pediatric Surgery Case Reports2213-57662022-01-0176102123Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencingNikolai Juul0Oliver Willacy1Mathilde Maagaard2Tina Olsen3Jakob Ek4Inge Ifaoui5Magdalena Fossum6Division of Pediatric Surgery, Department of Surgery and Transplantation, Rigshospitalet Copenhagen University Hospital, Denmark; Laboratory of Tissue Engineering, Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark; Corresponding author. Blegdamsvej 9, opgang 9322, 2. sal, 2100, Copenhagen, Denmark.Division of Pediatric Surgery, Department of Surgery and Transplantation, Rigshospitalet Copenhagen University Hospital, Denmark; Laboratory of Tissue Engineering, Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DenmarkDepartment of Intensive Care for Newborns and Small Children, Rigshospitalet Copenhagen University Hospital, DenmarkDepartment of Pathology, Rigshospitalet Copenhagen University Hospital, DenmarkDepartment of Clinical Genetics, Rigshospitalet Copenhagen University Hospital, DenmarkDivision of Pediatric Surgery, Department of Surgery and Transplantation, Rigshospitalet Copenhagen University Hospital, DenmarkDivision of Pediatric Surgery, Department of Surgery and Transplantation, Rigshospitalet Copenhagen University Hospital, Denmark; Laboratory of Tissue Engineering, Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark; Laboratory of Tissue Engineering, Department of Women's and Children's Health, Bioclinicum, Karolinska Institutet, Stockholm, SwedenSpontaneous intestinal perforation, although rare, involves high morbidity and mortality in neonates. The etiology of the condition is to this day largely unknown. Here, we present a case of monochorionic preterm twins with synchronized spontaneous intestinal perforation, and the results from whole-genome sequencing to assess possible associations to known genetic diseases. We also discuss other publications related to the etiology of spontaneous intestinal performation or necrotizing enterocolitis in newborn premature children.http://www.sciencedirect.com/science/article/pii/S2213576621003444Spontaneous intestinal perforationTwinsWhole genome sequencing |
| spellingShingle | Nikolai Juul Oliver Willacy Mathilde Maagaard Tina Olsen Jakob Ek Inge Ifaoui Magdalena Fossum Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing Journal of Pediatric Surgery Case Reports Spontaneous intestinal perforation Twins Whole genome sequencing |
| title | Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing |
| title_full | Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing |
| title_fullStr | Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing |
| title_full_unstemmed | Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing |
| title_short | Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing |
| title_sort | simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing |
| topic | Spontaneous intestinal perforation Twins Whole genome sequencing |
| url | http://www.sciencedirect.com/science/article/pii/S2213576621003444 |
| work_keys_str_mv | AT nikolaijuul simultaneousdebutofspontaneousintestinalperforationinapairofpretermmonozygotictwinsassessedbywholegenomesequencing AT oliverwillacy simultaneousdebutofspontaneousintestinalperforationinapairofpretermmonozygotictwinsassessedbywholegenomesequencing AT mathildemaagaard simultaneousdebutofspontaneousintestinalperforationinapairofpretermmonozygotictwinsassessedbywholegenomesequencing AT tinaolsen simultaneousdebutofspontaneousintestinalperforationinapairofpretermmonozygotictwinsassessedbywholegenomesequencing AT jakobek simultaneousdebutofspontaneousintestinalperforationinapairofpretermmonozygotictwinsassessedbywholegenomesequencing AT ingeifaoui simultaneousdebutofspontaneousintestinalperforationinapairofpretermmonozygotictwinsassessedbywholegenomesequencing AT magdalenafossum simultaneousdebutofspontaneousintestinalperforationinapairofpretermmonozygotictwinsassessedbywholegenomesequencing |