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Misses and Near Misses in Paediatric Appendicitis: An Eight-Year, Single-Centre Retrospective Review.
Acta Paediatr
January 2025
Department of Pathology, Sourasky Medical Center, Tel Aviv, Israel.
Aim: Diagnostic error can result in the appendectomy of a normal appendix, commonly known as negative appendectomy (NA). Missed appendicitis (MA) is related to a poor outcome. The aim of this study was to determine whether there are factors in presentation associated with NA or MA.
View Article and Find Full Text PDFZinner syndrome unveiled: Ectopic ureter and seminal vesicle cyst leading to urinary dysfunction: A case report.
Radiol Case Rep
March 2025
Department of Radiology, Makassed hospital, Jerusalem, Palestine.
Zinner syndrome (ZS) is a rare congenital urological condition characterized by a triad of ipsilateral seminal vesicle cysts, unilateral renal agenesis, and ejaculatory duct obstruction, first described in 1914. This case report details the presentation and management of a 27-year-old male diagnosed with ZS following a 2-month history of urinary frequency, hesitancy, dysuria, and painful ejaculation. Physical examination revealed a left lower abdominal mass, and imaging confirmed the classic findings of ZS, including unilateral renal agenesis, an enlarged seminal vesicle cyst, and an ectopic ureter.
View Article and Find Full Text PDFThe Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the gene, leads to the accumulation of glycosphingolipids, mainly globotriaosylceramide in the lysosomes of different cell types. The clinical presentation of Fabry disease is multisystemic and can vary depending on the specific genetic variants associated with the disease.
View Article and Find Full Text PDFAn atypical presentation of autoimmune hepatitis with delayed menarche in a Nigerian adolescent: a case report.
J Med Case Rep
January 2025
Gastroenterology Unit, Enugu State University of Science and Technology, Parklane, Enugu, Nigeria.
Background: Autoimmune hepatitis is a chronic liver disease marked by immune-mediated inflammation, necrosis, and the potential to progress to cirrhosis if not treated. This case report presents a rare and atypical presentation of autoimmune hepatitis in a Nigerian adolescent girl, highlighting diagnostic challenges in resource-limited settings. The case is unique owing to the absence of jaundice, a common symptom of liver dysfunction, and features such as delayed menarche and bilateral leg swelling.
View Article and Find Full Text PDFPediatric pancreatic acinar cell carcinoma with a non-canonical BRAF-KMT2C fusion and a classic SND1-BRAF fusion: a case report and literature review.
BMC Pediatr
January 2025
Department of Pediatric, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Background: Pediatric pancreatic acinar cell carcinoma (PACC) is an exceptionally rare and poorly understood malignancy with a challenging prognosis. Its clinical presentation is often atypical, and standardized treatment guidelines are currently unavailable. While genetic alterations in adult PACC have been studied to some extent, knowledge of genetic abnormalities in pediatric cases remains limited.
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