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A Rare Case of Idiopathic Megacolon and Megarectum.
Cureus
December 2024
General Surgery, King's College Hospital London, Dubai Hills, Dubai, ARE.
Idiopathic megacolon and megarectum are rare clinical conditions characterized by irreversible dilation of the colon and rectum without an identifiable organic cause. The underlying pathophysiology remains poorly understood, though hypotheses suggest abnormalities in the enteric nervous system or smooth muscle dysfunction. These conditions present significant diagnostic and therapeutic challenges, especially in cases refractory to conservative treatment.
View Article and Find Full Text PDFAtypical Presentation of Hirschsprung's Disease in an Infant: Challenges in Early Diagnosis and Management of Recurrent Enterocolitis.
Cureus
November 2024
Pediatric Medicine, New York Institute of Technology (NYIT) College of Osteopathic Medicine, Old Westbury, USA.
Hirschsprung's disease is a congenital condition characterized by the absence of ganglion cells in the intestines, leading to bowel obstruction. The lack of ganglion cells disrupts the normal motility of the intestines, causing a functional obstruction. This can lead to enterocolitis, an inflammation of the intestines, which is a serious complication in infants with Hirschsprung's disease.
View Article and Find Full Text PDF[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, Central Laboratory of Birth Defects Prevention and Control, the Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang 315012, China.
Objective: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS).
Methods: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected.
Bowel perforation in neonates with Hirschsprung disease: a case series and literature review.
Pediatr Surg Int
December 2024
Department of Neonatal Surgery, National Center for Children's Health, Beijing Children Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China.
Article Synopsis
- * Data was gathered from 300 neonates with HD, revealing that 6.0% (18) experienced bowel perforation, predominantly in the proximal ganglionic segment, with most cases involving short-segment (38.9%) or long-segment (50.0%) HD.
- * All affected neonates underwent timely surgery, primarily stoma creation, which led to no reported deaths, although some faced postoperative complications like stoma retraction and bowel obstruction.
Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease.
J Pediatr Surg
November 2024
Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Introduction: It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.
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