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Fibromatosis of the breast: a case report and literature review.
AME Case Rep
December 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Background: Fibromatosis of the breast, also known as desmoid-type fibromatosis (DTF), is a rare tumor marked by the development of non-metastatic, locally aggressive tumors in breast tissue. It represents only 0.2% of all breast tumors.
View Article and Find Full Text PDFArtificial Intelligence in Pancreatic Imaging: A Systematic Review.
United European Gastroenterol J
January 2025
"Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
The rising incidence of pancreatic diseases, including acute and chronic pancreatitis and various pancreatic neoplasms, poses a significant global health challenge. Pancreatic ductal adenocarcinoma (PDAC) for example, has a high mortality rate due to late-stage diagnosis and its inaccessible location. Advances in imaging technologies, though improving diagnostic capabilities, still necessitate biopsy confirmation.
View Article and Find Full Text PDFα-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.
J Neuropathol Exp Neurol
January 2025
Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and α-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G>A, p.
View Article and Find Full Text PDFA novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma.
Cancer Genet
January 2025
Cincinnati Children's Hospital Medical Center, Division of Oncology, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:
Introduction: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2].
View Article and Find Full Text PDFArtificial Intelligence for Adenoma and Polyp Detection During Screening and Surveillance Colonoscopy: A Randomized-Controlled Trial.
J Clin Med
January 2025
Haya Al-Habeeb Gastroenterology Center, Mubarak Alkabeer Hospital, Jabriyah 13110, Kuwait.
Colorectal cancer (CRC) is the second leading cause of cancer death in Kuwait. The effectiveness of colonoscopy in preventing CRC is dependent on a high adenoma detection rate (ADR). Computer-aided detection can identify (CADe) and characterize polyps in real time and differentiate benign from neoplastic polyps, but its role remains unclear in screening colonoscopy.
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