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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFPrognostic value of carcinoembryonic antigen in colorectal adenocarcinoma: expanding hypotheses into clinical practice.
Clin Exp Med
January 2025
Liver & Peritonectomy Unit, Department of Surgery, St George Hospital, Pitney Building, Short Street, Kogarah, NSW, 2217, Australia.
Purpose: This study seeks to resolve a fundamental question in oncology: Why do appendiceal and colorectal adenocarcinomas exhibit distinct liver metastasis rates? Building on our prior hypothesis published in the British Journal of Surgery, our institution has investigated potential DNA mutations within the carcinoembryonic antigen-related cell adhesion molecule (CEACAM5) gene's Pro-Glu-Leu-Pro-Lys (PELPK) motif to evaluate its role as a biomarker for liver metastasis risk.
Methods: Partnering with the Australian Genome Research Facility, the PELPK motif of CEACAM5 was analysed in colorectal and appendiceal adenocarcinomas to detect DNA mutations associated with liver metastasis. Additionally, our institution performed the COPPER trial to assess carcinoembryonic antigen (CEA) levels in portal versus peripheral blood in patients with appendiceal adenocarcinoma and a systematic review and meta-analysis of 136 studies on CEA's prognostic significance among patients with colorectal and appendiceal adenocarcinoma.
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.
Nat Med
January 2025
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.
Nearly all pancreatic adenocarcinomas (PDAC) are genomically characterized by KRAS exon 2 mutations. Most patients with PDAC present with advanced disease and are treated with cytotoxic therapy. Genomic biomarkers prognostic of disease outcomes have been challenging to identify.
View Article and Find Full Text PDFDeeper response predicts better outcomes in high-risk-smoldering-myeloma: results of the I-PRISM phase II clinical trial.
Nat Commun
January 2025
Center for Early Detection and Interception of Blood Cancers, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Early therapeutic intervention in high-risk smoldering multiple myeloma (HR-SMM) has shown benefits, however, no studies have assessed whether biochemical progression or response depth predicts long-term outcomes. The single-arm I-PRISM phase II trial (NCT02916771) evaluated ixazomib, lenalidomide, and dexamethasone in 55 patients with HR-SMM. The primary endpoint, median progression-free survival (PFS), was not reached (NR) (95% CI: 57.
View Article and Find Full Text PDFMechanistic Investigation of the Ce(III) Chloride Photoredox Catalysis System: Understanding the Role of Alcohols as Additives.
J Am Chem Soc
January 2025
P. Roy and Diana T. Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, 231 S. 34th St., Philadelphia, Pennsylvania 19104, United States.
Photocatalytic C-H activation is an emerging area of research. While cerium chloride photocatalysts have been extensively studied, the role of alcohol additives in these systems remains a subject of ongoing discussion. It was demonstrated that the photocatalyst [NEt][CeCl] () produces •Cl and added alcohols exhibit zero-order kinetics.
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