Purpose Of Review: As abdominal imaging becomes more sensitive and regularly used, pancreatic cystic lesions (PCLs) are being diagnosed more frequently. A small but clinically significant minority of these lesions have a predisposition to either harbor malignancy or undergo malignant transformation. This review highlights the current state and performance of cystic fluid biomarkers and how they may be incorporated into management.
Recent Findings: Among the major domains of molecular testing for PCLs, DNA based analyses have demonstrated the highest accuracy in identifying cyst type and have the most data to support their clinical use. However, epigenetic and protein biomarker based molecular assessments have emerged with the potential to complement DNA based approaches. In addition, recent studies have increasingly demonstrated the value associated with combinations of mutations and other biomarkers in identifying higher grade mucinous cystic lesions. We present the performance of individual biomarkers in cyst fluid analysis with an emphasis on an algorithmic approach to improve the accurate identification of both cyst type and risk of malignant transformation.
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http://dx.doi.org/10.1007/s11894-023-00877-6 | DOI Listing |
JAMA Netw Open
January 2025
Mental Illness Research, Education and Clinical Center, Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania.
Importance: Recently, the US Food and Drug Administration gave premarketing approval to an algorithm based on its purported ability to identify individuals at genetic risk for opioid use disorder (OUD). However, the clinical utility of the candidate genetic variants included in the algorithm has not been independently demonstrated.
Objective: To assess the utility of 15 genetic variants from an algorithm intended to predict OUD risk.
JAMA Netw Open
December 2024
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.
Importance: Identification of individuals at high risk of alcohol use disorder (AUD) and subsequent application of prevention and intervention programs has been reported to decrease the incidence of AUD. The polygenic score (PGS), which measures an individual's genetic liability to a disease, can potentially be used to evaluate AUD risk.
Objective: To assess the estimability and generalizability of the PGS, compared with family history and ADH1B, in evaluating the risk of AUD among populations of European ancestry.
Neuroradiol J
January 2025
Department of Neuroradiology, Mayo Clinic, USA.
Despite their similar nomenclature, Neurofibromatosis type 1 (NF1) and "Neurofibromatosis type 2" are discrete and clinically distinguishable entities. The name of "neurofibromatosis type 2" has been changed to NF2-related schwannomatosis, to reflect the fact that neurofibromas do not occur in this syndrome and therefore the name "Neurofibromatosis" is factually incorrect. Furthermore, multiple schwannomas, a hallmark feature of NF2, can also occur in patients with mutations in genes including SMARCB1 and LZTR1, all exhibiting overlapping clinical features.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany.
Background: Memory clinic patients are a heterogeneous population representing various aetiologies of pathological aging. It is unknown if divergent spatiotemporal progression patterns of brain atrophy, as previously described in Alzheimer's disease (AD) patients, are prevalent and clinically meaningful in this group of older adults.
Method: To uncover atrophy subtypes, we applied the Subtype and Stage Inference (SuStaIn) algorithm to structural MRI data from 813 participants (mean ± SD age = 70.
Radiol Cardiothorac Imaging
February 2025
From the University Medical Center Göttingen, Department of Cardiology and Pneumology, Georg-August University, Robert-Koch-Strasse 40, 37075 Göttingen, Germany (T.L., B.E.B., A. Schulz, R.E., K.R.R., K.T., G.H., M.P., A. Schuster); German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany (T.L., B.E.B., A. Schulz, R.E., K.R.R., K.T., G.H., M.P., A. Schuster); Department of Medicine, Cardiovascular Division, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Mass (A. Schulz); Department of Cardiology, Campus Kerckhoff of the Justus-Liebig-University Giessen, Kerckhoff-Clinic, Bad Nauheim, Germany (S.J.B.); German Center for Cardiovascular Research (DZHK), Partner Site Rhine-Main, Bad Nauheim, Germany (S.J.B.); FORUM Radiology, Rosdorf, Germany (J.T.K.); Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany (G.H.); and FORUM Cardiology, Rosdorf, Germany (A. Schuster).
Purpose To assess the prognostic implications of cardiac MRI-derived imaging markers in individuals with severe aortic stenosis (AS). Materials and Methods This prospective study (German Clinical Trials Register, DRKS00024479) enrolled individuals with severe AS who underwent cardiac MRI before transcatheter aortic valve replacement (TAVR) from January 2017 to March 2022. Image analyses included myocardial volumes, cardiac MRI feature tracking-derived left atrial (LA) and right atrial (RA) as well as left ventricular (LV) and right ventricular (RV) strain, myocardial T1 mapping, and late gadolinium enhancement analyses.
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