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Clinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration.
JAMA Cardiol
January 2025
National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Hospital, London, United Kingdom.
Importance: Patients with transthyretin (ATTR) cardiac amyloid infiltration are increasingly diagnosed at earlier disease stages with no heart failure (HF) symptoms and a wide range of cardiac amyloid infiltration.
Objective: To characterize the clinical phenotype and natural history of asymptomatic patients with ATTR cardiac amyloid infiltration.
Design, Setting, And Participants: This cohort study analyzed data of all patients at 12 international centers for amyloidosis from January 1, 2008, through December 31, 2023.
Attenuated cardiac autonomic function in patients with long-COVID with impaired orthostatic hemodynamics.
Clin Auton Res
January 2025
Department of Cardiac Sciences, Libin Cardiovascular Institute, University of Calgary, GAC70 HRIC Building, 3280 Hospital Dr NW, Calgary, AB, T2N 4Z6, Canada.
Purpose: Long-coronavirus disease (long-COVID) is associated with initial orthostatic hypotension and postural orthostatic tachycardia syndrome. Whether altered autonomic tone underlies these abnormalities is unknown. We compared autonomic function between patients with long-COVID and healthy controls, and within patients with long-COVID with different orthostatic hemodynamic phenotypes.
View Article and Find Full Text PDFConventional and genetic association between migraine and stroke with druggable genome-wide Mendelian randomization.
Hum Genet
January 2025
Department of Oto-Rhino-Laryngology, West China Hospital, Sichuan University, Chengdu, China.
The genetic relationship between migraine and stroke remains underexplored, particularly in the context of druggable targets. Previous studies have been limited by small sample sizes and a lack of focus on genetic-targeted therapies for these conditions. We analyzed the association and causality between migraine and stroke using multivariable logistic regression in the UK Biobank cohort and Mendelian randomization (MR) analyses based on genome-wide association study (GWAS) data.
View Article and Find Full Text PDFGenetic analysis of a pedigree with hereditary coagulation factor XII deficiency.
Ann Hematol
January 2025
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Analyze the clinical phenotype and gene mutations of a family with hereditary FXII deficiency, and preliminarily explore its phenotypic manifestations. The routine coagulation indicators and related coagulation factors were measured.Thromboelastography and thrombin generation tests simulated coagulation and anticoagulation states in vitro and in vivo.
View Article and Find Full Text PDFTargeting EPHB2/ABL1 restores antitumor immunity in preclinical models of ependymoma.
Proc Natl Acad Sci U S A
January 2025
Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114.
Ependymoma (EPN) is a common form of brain tumor in children, often resistant to available cytotoxic therapies. Molecular profiling studies have led to a better understanding of EPN subtypes and revealed a critical role of oncogenes ZFTA-RELA fusion and EPHB2 in supratentorial ependymoma (ST-EPN). However, the immune system's role in tumor progression and response to therapy remains poorly understood.
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