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Breast Cancer MRI Screening of Patients After Multiplex Gene Panel Testing.
JAMA Netw Open
January 2025
City of Hope National Medical Center, Duarte, California.
Importance: Enhanced breast cancer screening with magnetic resonance imaging (MRI) is recommended to women with elevated risk of breast cancer, yet uptake of screening remains unclear after genetic testing.
Objective: To evaluate uptake of MRI after genetic results disclosure and counseling.
Design, Setting, And Participants: This multicenter cohort study was conducted at the University of Southern California Norris Cancer Hospital, the Los Angeles General Medical Center, and the Stanford University Cancer Institute.
Peutz-Jeghers syndrome - Be in need of vigilance: A case report.
J Family Med Prim Care
December 2024
Department of Surgery, Datta Meghe Medical College, DMIHER University, Wardha, Maharashtra, India.
Peutz-Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene.
View Article and Find Full Text PDFLandscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.
JCO Glob Oncol
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González," Universidad Autónoma de Nuevo León, Monterrey, México.
Purpose: Hereditary cancer syndromes (HCS) explain 5%-10% of all cancer cases. Patients with more than one germline pathogenic variant (GPV) result in a clinical syndrome known as multilocus inherited neoplasia allele syndrome (MINAS). In recent years, an increasing number of MINAS cases have been reported.
View Article and Find Full Text PDFBiomimetic Cerium-Assisted Supra-Carbon Dots Assembly for Reactive Oxygen Species-Activated Atherosclerosis Theranostic.
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January 2025
Key Laboratory for Biorheological Science and Technology of Ministry of Education, State and Local Joint Engineering Laboratory for Vascular Implants, Bioengineering College of Chongqing University, Chongqing University Three Gorges Hospital, Chongqing, 400044, China.
Theranostic applications in atherosclerosis plaque microenvironment-triggered nanoplatforms are significantly compromised by the complex synthesis procedure, non-specific distribution, and limited therapeutic function. Therefore, development of a facile and feasible method to construct a pathology-based stimuli-responsive nanoplatform with satisfactory theranostic performance remains a demanding and highly anticipated goal. Herein, a novel class of multifunctional supra-carbon dots (CDs), denoted as MM@Ce-CDs NPs, by a simple nanoassembly and a subsequent coating with macrophage membrane (MM), is developed for the targeted reactive oxygen species-trigged theranostic and positive regulation of the pathological plaque microenvironment in AS.
View Article and Find Full Text PDFNovel gene mutation associated with central precocious puberty in a Chinese child: a case report.
Front Endocrinol (Lausanne)
January 2025
Baoding Hospital, Beijing Children's Hospital Affiliated with Capital Medical University, Baoding, China.
Objective: The objective of this study is to investigate the clinical presentation and underlying genetic etiology of a Chinese child diagnosed with idiopathic central precocious puberty (ICPP).
Methods: Clinical data from a pediatric patient with ICPP, including medical history, physical examination findings, laboratory results, and imaging studies, were collected and analyzed. Whole exome sequencing (WES) was performed to identify potential pathogenic genetic variants underlying the patient's ICPP.
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