Results 51 to 60 of about 1,107 (148)

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Molecular Genetics & Genomic Medicine, 2021
Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien   +11 more
doaj   +1 more source

Living Donor Intestinal Transplant: Indication, Techniques, Surgical Complications, and Outcomes in Recipients and Donors: A Systematic Review

Journal of Transplantation, Volume 2026, Issue 1, 2026.
Background Living donor intestinal transplantation (LDITx) is an alternative option to cadaveric transplants as a last resort in treating intestinal failure. There are limited data on LDITx outcomes. This systematic review evaluates LDITx in terms of indications, contraindications, surgical complications, and patient outcomes.
Adil Nusair, Saad Bin Yousuf, Ahmed Adham R. Elsayed, Marc D. Basson, Richa Sharma   +4 more
wiley   +1 more source

Persistent Ompahalomesenteric Duct in a Newborn With 16p11.2 Deletion: Report of New Findings

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Omphalomesenteric duct (OMD) is an embryologic communication between the extraembryonic yolk sac and the primitive midgut. The OMD malformations are relatively rare diseases associated with developmental defects related to the closure of the omphalomesenteric duct. These malformations can present in various forms, including cysts, fistulas, or
Surasak Puvabanditsin, Sathyaprasad Burjonrappa, Natasha Cordero, Su Young Park, Jenny Choi, Amrryn Halari, Dawn Arumemi, Rajeev Mehta   +7 more
wiley   +1 more source

Spontaneous bile duct perforation with cystic fibrosis and meconium ileus

Journal of Pediatric Surgery Case Reports, 2015
Spontaneous bile duct perforation in the newborn is rare, with less than 150 cases reported. A term male newborn presented with abdominal distention and respiratory distress on the first day of life. Paracentesis revealed 420 mL of bile without succus or
Nicole Hooft, David M. Notrica, Jae-O. Bae   +2 more
doaj   +1 more source

Long‐term growth and nutrition outcomes in children following intestinal transplantation

Journal of Pediatric Gastroenterology and Nutrition, Volume 80, Issue 3, Page 490-497, March 2025.
Abstract Objective Intestinal transplantation (ITx) has become an accepted option for children with serious complications from intestinal failure and parenteral nutrition (PN) dependence. We aimed to assess long‐term growth and nutritional outcomes in these patients.
Ahmad Miri, Angela K. Iverson, Nathan Law, Junghyae Lee, Ruben E. Quiros Navarrete, Emille M. Reyes‐Santiago, Warapan Nakayuenyongsuk, David F. Mercer, Luciano M. Vargas, Shaheed Merani, Wendy J. Grant, Alan N. Langnas, Ruben E. Quiros‐Tejeira   +12 more
wiley   +1 more source

Pneumoperitoneum in in-vitro Conceived Quadruplet Neonate: Rare Manifestation of Hirschsprungʼs Disease – Report of a Case

Acta Medica, 2016
Introduction: Hirschsprung’s disease is a congenital colonic aganglionosis, usually presented as inability or difficulty in passing of meconium, chronic and persistent obstipation, maleficent feeding, vomiting, distension and lethargy. Case presentation:
Jakov Mihanović, Ivo Jurić, Zenon Pogorelić, Ivana Mrklić, Miro Jukić, Dubravko Furlan   +5 more
doaj   +1 more source

Retrospective review of growth in pediatric intestinal failure after weaning from parenteral nutrition

Nutrition in Clinical Practice, Volume 40, Issue 1, Page 176-187, February 2025.
Abstract Background Growth outcomes in children with intestinal failure (IF) after weaning from parenteral nutrition (PN) may be modified by primary diagnosis and interventions aimed at achieving enteral tolerance. We evaluated growth after weaning by diagnosis and intestinal transplant status and during treatment with the glucagon‐like peptide‐2 ...
Anita M. Nucci, Hillary Bashaw, Alexander Kirpich, Jeffrey Rudolph   +3 more
wiley   +1 more source

A rare case of neonatal colonic obstruction caused by a solitary intestinal tumor

Surgical Case Reports, 2021
Background Intestinal obstruction caused by a tumor is very rare in newborns, and the preoperative diagnosis is difficult. We herein report a rare case of neonatal colonic obstruction due to solitary intestinal myofibroma with characteristic findings on ...
Yu Sugai, Yutaka Hirayama, Yasushi Iinuma, Kengo Nakaya, Takato Aikou, Shotaro Taki, Hideki Hashidate, Yoshiaki Kinoshita   +7 more
doaj   +1 more source

Performance of Prenatal Ultrasound Screening for the Relative Positioning of Mesenteric Vessels

Journal of Ultrasound in Medicine, Volume 44, Issue 1, Page 35-45, January 2025.
Objectives Abnormal relative positioning of the superior mesenteric artery (SMA) and vein (SMV) can lead to intestinal malrotation that predisposes to midgut volvulus. The aim of this study was to assess the prenatal ultrasound ability to visualize the relative position of SMA and SMV in normal pregnancies. Methods Prospective cohort study performed in
Jean Michel Faure, Anne Larroque‐Devigne, Dominique Forgues, Eve Mousty, Alain Couture, Nicolas Kalfa, Olivier Prodhomme, Florent Fuchs   +7 more
wiley   +1 more source

Indications and Outcomes of Fetal Cystoscopy for Lower Urinary Tract Obstruction: A Comprehensive Review

Prenatal Diagnosis, Volume 45, Issue 1, Page 89-101, January 2025.
ABSTRACT Fetal lower urinary tract obstruction (LUTO) encompasses a spectrum of rare congenital anomalies affecting the fetal urinary system, leading to significant morbidity and mortality. This condition, arising from various anatomical anomalies such as posterior urethral valves (PUV), urethral atresia, and cloacal malformations, disrupts normal ...
Ugo Maria Pierucci, Irene Paraboschi, Giulia Lanfranchi, Matthieu Peycelon, Gloria Pelizzo, Rodrigo Ruano   +5 more
wiley   +1 more source