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Advances in multimodal imaging for adrenal gland disorders: integrating CT, MRI, and nuclear medicine.
Jpn J Radiol
January 2025
Department of Diagnostic Radiology, Institute of Science Tokyo, Bunkyo-ku, Tokyo, Japan.
Adrenal diseases pose significant diagnostic challenges due to the wide range of neoplastic and non-neoplastic pathologies. Radiologists have a crucial role in diagnosing and managing these conditions by, leveraging advanced imaging techniques. This review discusses the vital role of computed tomography (CT), magnetic resonance imaging (MRI), and nuclear medicine in adrenal imaging, and focuses on morphological and functional evaluations.
View Article and Find Full Text PDFDistinct clinical phenotypes in gastric pathologies: a cluster analysis of demographic and biomarker profiles in a diverse patient population.
J Gastrointest Surg
January 2025
Familial and Hereditary Cancers Institute, Tehran, Iran. Electronic address:
Background: Understanding the heterogeneity of a population at risk is an important step in the early detection of gastric cancer. We aimed to cluster demographic, hematological, and biochemical markers of gastric cancer in a heterogeneous sample of patients.
Methods: Data of 695 adult patients (50.
Clinicopathological Characteristics and Long-Term Outcomes of Cystic vs. Solid Pancreatic Neuroendocrine Tumors: A Multi-Institutional Experience with 1727 Patients.
Ann Surg
January 2025
Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Objective: To investigate the clinicopathological features and long-term outcomes of cystic and solid pancreatic neuroendocrine tumors (PanNETs).
Summary Background Data: PanNETs uncommonly present as cystic lesions. Whether cystic PanNETs represent a distinct clinical entity compared to solid PanNETs is controversial.
Reinterpretation of Conflicting ClinVar Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.
Diagnostics (Basel)
December 2024
Department of Laboratory Medicine, Ewha Womans University College of Medicine, Seoul 03760, Republic of Korea.
Background: The accurate interpretation of the /2 variant is critical for diagnosing and treating hereditary breast and ovarian cancers. ClinVar is a widely used public database for genetic variants. Conflicting classifications of pathogenicity can occur when different submitters categorize the same genetic variant inconsistently as pathogenic (PV), likely pathogenic (LPV), likely benign (LBV), benign (BV), or a variant of uncertain significance (VUS).
View Article and Find Full Text PDFLeveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.
PLoS Genet
January 2025
Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene is associated with a hereditary cancer predisposition syndrome or a non-cancer-related developmental disorder, has not been systematically assessed.
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