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Duplication of the common bile duct associated with dorsal pancreas agenesis: a diagnostic enigma and a major therapeutic turning point.
J Surg Case Rep
January 2025
Department of General Surgery, Mohammed VI University Hospital, Oujda, Morocco.
We present a pioneering case of a duplication of the common bile duct associated with agenesis of the dorsal pancreas in a 66-year-old man. After an episode of cholestatic jaundice, radiological investigations revealed complex vascular and biliary anomalies, redefining the therapeutic strategy. Instead of risky surgery, endoscopic biliopancreatic drainage resolved the symptoms.
View Article and Find Full Text PDFPredicting outcomes with compounding comorbidities - Left-sided congenital diaphragmatic hernia complicated by pre-viable premature rupture of the membranes: A case report.
Case Rep Womens Health
March 2025
Westmead Hospital, New South Wales, Australia.
This case report describes the difficulty in predicting the outcomes for a fetus affected with both left-sided congenital diaphragmatic hernia and second-trimester pre-viable rupture of membranes. Despite the reserved prognosis at the time of diagnosis, a favourable outcome was obtained. The case highlights the relevance of established prognosticators such as the observed/expected lung/head ratio and also underscores the importance of balanced counselling and providing parents with realistic expectations and appropriate support.
View Article and Find Full Text PDFRelationship between pregnant women's combined exposure to heavy metals and their offspring's congenital heart defects in Lanzhou, China.
Front Pediatr
January 2025
Gansu University of Chinese Medicine, Lanzhou, Gansu Province, China.
Background: Previous research has demonstrated that exposure to individual heavy metals elevates the incidence rate of congenital heart defects (CHDs). However, there is a paucity of data concerning the relationship between combined exposure to multiple heavy metals and the occurrence of CHDs. This study seeks to investigate the association between combined heavy metal exposure in pregnant women and the incidence of CHDs in their offspring in Lanzhou, China.
View Article and Find Full Text PDFCase report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Front Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFSurgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Gynecol Oncol Rep
February 2025
Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
Introduction: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity.
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