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Diaphragm injuries in a mature trauma system: still a diagnostic challenge.
Front Surg
December 2024
Department of Surgery, University Medical Centre Utrecht, Utrecht, Netherlands.
Background: A traumatic diaphragm defect is a rare injury. A missed diaphragm injury may cause serious morbidity and mortality. Detection rate during the first assessment of trauma patients is notoriously low.
View Article and Find Full Text PDF[Difficulties in surgical treatment of fixed cardiofundal axial esophageal hiatal hernia].
Khirurgiia (Mosk)
December 2024
Kuban State Medical University, Krasnodar, Russia.
One of the most common gastrointestinal diseases is esophageal hiatal hernia. It is the third most common disease after peptic ulcer and cholecystitis. We present surgical treatment of a patient with fixed axial cardiofundal hiatal hernia and previous laparoscopic repair of large hiatal hernia.
View Article and Find Full Text PDFLaparoscopic repair of intrathoracic kidney associated with giant congenital diaphragmatic hernia: an infant case report and literature review.
Front Pediatr
December 2024
Department of Neonatal Surgery, Shanxi Provincial Children's Hospital, Taiyuan, China.
Background: Intrathoracic kidney (ITK) is a rare congenital disease, with only about 40 pediatric cases reported worldwide to date. ITK associated with congenital diaphragmatic hernia (CDH) is even rarer, and we report a case of an infant with ITK combined with a giant CDH.
Case Description And Management: A six-month-old male infant was hospitalized due to "vomiting for 4 days".
Validation and in silico function prediction of circtial1 as a novel marker of abnormal lung development in nitrofen-induced congenital diaphragmatic hernia (CDH).
Pediatr Surg Int
December 2024
Division of Pediatric Surgery, Department of Surgery, Max Rady College of Medicine, University of Manitoba, and Children's Hospital Research Institute of Manitoba, AE402-820 Sherbrook Street, Winnipeg, MB, R3A 1S1, Canada.
Purpose: Circular RNAs (circRNAs) are stable, non-coding RNAs with tissue- and developmental-specific expression making them suitable biomarkers for congenital anomalies. Current circRNA discovery pipelines have focused on human and mouse. We aim to bridge this gap by combining bioinformatics resources and used circtial1 as a model candidate in the nitrofen rat model of congenital diaphragmatic hernia (CDH).
View Article and Find Full Text PDFA Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome.
Prenat Diagn
December 2024
Central Lab (Genetics Lab), Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China.
Article Synopsis
- Chromosomal analysis using CMA, MS-MLPA, and trio-WES was conducted on a female fetus with omphalocele, identifying a new 300-kb deletion in the Xq13.1 region affecting the MED12 gene.
- An ultrasound at 18 weeks showed features indicative of Hardikar syndrome, such as cleft lip and palate, diaphragmatic hernia, and heart displacement.
- The findings suggest that the deletion of the MED12 gene may play a critical role in the development of Hardikar syndrome, highlighting the potential impact of haploinsufficiency of this gene.
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