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The emergence of multicancer early detection (MCED) tests holds promise for improving early cancer detection and public health outcomes. However, positive MCED test results require confirmation through recommended cancer diagnostic imaging modalities. To address these challenges, we have developed a consultation and work-up protocol for definitive diagnostic results post MCED testing, named SPOT-MAS. Developed through circulating tumor DNA (ctDNA) analysis and in line with professional guidelines and advisory board consensus, this protocol standardizes information to aid general practitioners in accessing, interpreting and managing SPOT-MAS results. Clinical effectiveness is demonstrated through a series of identified cancer cases. Our research indicates that the protocol could empower healthcare professionals to confidently interpret circulating tumor DNA test results for 5 common types of cancer, thereby facilitating the clinical integration of MCED tests.
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http://dx.doi.org/10.1080/20565623.2024.2395244 | DOI Listing |
Pulmonary hypertension is common in children with Trisomy 21, frequently with multifactorial aetiologies. Registry data provide better understanding of disease development, diagnostic workup and treatment patterns in children with Trisomy 21. TOPP (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension) is a centre-based, comprehensive registry.
View Article and Find Full Text PDFCurr Opin Immunol
September 2025
Center for Interstitial and Rare Lung Diseases, Pneumology Department, University Hospital Essen, Ruhrlandklinik, Essen, Germany.
Purpose Of Review: Diagnosing sarcoidosis remains challenging. Histology findings and a variable clinical presentation can mimic other infectious, malignant, and autoimmune diseases. This review synthesizes current evidence on histopathology, sampling techniques, imaging modalities, and biomarkers and explores how emerging 'omics' and artificial intelligence tools may sharpen diagnostic accuracy.
View Article and Find Full Text PDFFront Oncol
August 2025
Department of Radiation Medicine, Oregon Health & Science University, Portland, OR, United States.
Purpose/objectives: Cancer screening continues to be a major challenge, with reliable tests only being available for very few cancers. Multi-cancer early detection (MCED) genomic tests are being developed that allow for blood-based screening of multiple cancers simultaneously. The PATHFINDER study was a multi-institution prospective cohort study in healthy participants over the age of 50 years (no cancer history, or history of treated cancer > 3 years prior), investigating the feasibility of the Galleri (GRAIL, LLC) cfDNA methylation MCED blood test.
View Article and Find Full Text PDFCurr Diab Rep
September 2025
Metabolism, Endocrinology and Diabetes (MEND) Division, Internal Medicine Department, University of Michigan, 2800 Plymouth Road Building 25, Room 3696, Ann Arbor, MI, 48105, USA.
Purpose Of Review: The goal of this review is to address the challenges in diagnosing and managing lipodystrophy syndromes.
Recent Findings: Clinical and metabolic assessments, along with genetic analyses, are essential for tailoring medical care and providing appropriate genetic counseling. Efforts are underway to develop more objective diagnostic tools using imaging techniques or novel biomarkers.
Ophthalmic Plast Reconstr Surg
August 2025
Department of Ophthalmology, Baylor College of Medicine.
Purpose: To characterize the presentation, management, epidemiology, and long-term outcomes of periocular dog bites in 150 pediatric patients at a tertiary referral center, Texas Children's Hospital in Houston, Texas.
Methods: We performed a retrospective chart review from 2011 to 2024 of patients with a diagnosis of "dog bite" or one of 120 eye-related International Classification of Disease (ICD)-10 codes, and an inpatient ophthalmology consult. We collected data on clinical presentation, work-up, management, and outcomes.