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http://dx.doi.org/10.1016/j.dld.2023.08.047 | DOI Listing |
Rev Gastroenterol Peru
January 2025
Department of Pathology, Santa Casa Hospital, Porto Alegre, Brazil.
Pancreatic ductal adenocarcinoma during pregnancy is extremely rare. Overall, including our case, only 19 cases confirmed antepartum have been reported to date. We report the case of a 37 year-old woman at 24 weeks of pregnancy in whom a pancreatic adenocarcinoma was identified during investigation of a suspected acute pancreatitis.
View Article and Find Full Text PDFRev Gastroenterol Peru
January 2025
Centro de Gastroenterología, Bogotá, Colombia; Gastroenterología y endoscopia digestiva, Universidad Nacional de Colombia, Bogotá, Colombia; Gastroenterología, Hospital Universitario Nacional de Colombia, Bogotá, Colombia.
In this article, we present an exceptionally rare and challenging clinical case. It concerns a 65-year-old woman who, while eating, accidentally ingested a thorn. This foreign body, after being swallowed, migrated from the proximal esophagus, until it penetrated the left internal jugular vein.
View Article and Find Full Text PDFHum Mol Genet
January 2025
Department of Human Genetics, McGill University, 3666 McTavish Street, Montreal, QC H3A 1Y2, Canada.
Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation in protein levels impacts the same downstream pathways in human disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disease (SHD), where SGS is caused by too much protein, and SHD is caused by not enough SETBP1. Using patient and sex-matched healthy first-degree relatives from both SGS and SHD SETBP1 cases, we assessed how SETBP1 protein dosage affects downstream pathways in human forebrain progenitor cells.
View Article and Find Full Text PDFBioData Min
January 2025
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.
Background: The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult to discern. Understanding these mechanisms is critical for developing treatments that address the underlying causes of diseases rather than merely the presenting symptoms. Moreover, the same dysfunctional series of interrelated symptoms implicated in rare recessive diseases may also lead to milder and potentially preventable symptoms in carriers in the general population.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Karnali Academy of Health Science, Jumla, Nepal.
Introduction And Importance: Splenic artery aneurysm is extremely rare but potentially life threatening disease which poses great challenge in diagnosing due to non-specific nature of clinical presentation. Rarely, it presents with upper gastrointestinal bleeding i.e.
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