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Cytologic, histologic, and clinical correlation of minor mutations in pancreatic cysts.
Cancer Cytopathol
February 2025
Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Background: Major mutations (e.g., KRAS, GNAS, TP53, SMAD4) in pancreatic cyst fluid (PCF) are useful for classifying and risk stratifying certain cyst types, particularly in cases with nondiagnostic cytology.
View Article and Find Full Text PDFInpatient Audiograms: A Mixed Methods Study Examining Clinical Decision Making, Financial Analyses, and Audiologist Perspectives.
Otolaryngol Head Neck Surg
January 2025
Department of Otolaryngology-Head and Neck Surgery, University of Michigan, Ann Arbor, Michigan, USA.
Objective: Evaluate inpatient audiometry on clinical decision-making. Assess stakeholder perspectives on the practice of inpatient audiometry and financial impact.
Study Design: This is a mixed methods study utilizing retrospective chart review, a focus group, and financial analyses.
Nurses' Perception and Insight Into Uremic Pruritus in Patients With Chronic Kidney Disease on Dialysis: A Survey-Based Study.
J Ren Care
March 2025
NephroCare Italia, Napoli, Italy.
Background: Uremic pruritus is a quite common condition among patients with chronic kidney disease. Symptom severity and patterns are variable.
Aim: To assess how nurses in the field of nephrology perceive the issue of uremic pruritus in dialysis patients and the relevance of this condition.
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.
Genes Chromosomes Cancer
January 2025
Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.
Myelodysplastic neoplasia with complex karyotype (CK-MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision-making in MDS. However, the current standard-of-care (SOC) cytogenetic testing, relying on karyotyping, often yields ambiguous results in cases with CK.
View Article and Find Full Text PDFRevealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Clin Genet
January 2025
Department of Medical Genetics, Medical Faculty, Aksaray University, Aksaray, Turkiye.
Inherited retinal diseases (IRDs) constitute a heterogeneous group of clinically and genetically diverse conditions, standing as a primary cause of visual impairment among individuals aged 15-45, with an estimated incidence of 1:2000. Our study aimed to comprehensively evaluate the genetic variants underlying IRDs in the Turkish population. This study included 50 unrelated Turkish IRD patients and their families.
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