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Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience.
Orphanet J Rare Dis
January 2025
Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Background: Homozygous familial hypercholesterolaemia (HoFH) increases risk of premature cardiovascular events and cardiac death. In severe cases of HoFH, clinical signs and symptoms cannot be controlled well by non-surgical treatments, liver transplantation (LT) currently represents the viable option.
Method: To assess the clinical efficacy, prognosis, and optimal timing of LT for HoFH, a retrospective analysis was conducted on the preoperative, surgical conditions, and postoperative follow-up of children who received an LT for HoFH at the Beijing Friendship Hospital over the period from December 2014 to August 2022.
Role of aspirin in the primary prevention of cardiovascular disease in patients with hyperlipoproteinaemia(a).
Drugs Context
December 2024
2nd Department of Cardiology, National and Kapodistrian University of Athens, Athens, Greece.
Lipoprotein(a) [Lp(a)] is a well-established cardiovascular disease (CVD) risk factor with elevated Lp(a) levels contributing to a higher incidence of atherosclerotic CVD (ASCVD). However, no Lp(a)-specific interventions are currently available in the primary CVD prevention in individuals with elevated Lp(a) levels. RNA-based therapies targeting Lp(a) are under investigation in phase III clinical trials.
View Article and Find Full Text PDFPatient digital self-screening tool for familial hypercholesterolaemia: A pilot study.
Aust J Gen Pract
December 2024
FRACGP, MBBS (Hons), DCH (Lon), Associate Professor, Head General Practice and Primary Care Research, School of Medicine Sydney, University of Notre Dame, Sydney, NSW; General Practitioner, Glebe Family Medical Practice, Glebe, NSW.
Background And Objectives: Familial hypercholesterolaemia (FH) is a genetic condition contributing to premature cardiovascular disease. Currently, general practitioners (GPs) do not proactively screen for the condition. This study implemented and evaluated a digital FH self-screening questionnaire administered in general practice.
View Article and Find Full Text PDFMultifactorial chylomicronemia: keys to detecting severe forms.
Clin Investig Arterioscler
December 2024
Unidad de Lípidos y Riesgo Cardiovascular Servicio de Medicina Interna, Complejo Hospitalario Universitario de A Coruña, A Coruña, España.
Multifactorial chylomicronemia associated with multiple comorbidities, drugs and habits is much more common than familial chylomicronemia, an autosomal recessive disease that can be considered as "rare disease". Like the rest of hypertriglyceridemias, chylomicronemias could be classified as primary or monogenic and secondary in which, on the basis of polygenic predisposition, there is concomitant exposure to multiple triggering factors. In this brief revision, we will review its causes and management as well as the keys to its differential diagnosis of the Multifactorial Chylomicronemia.
View Article and Find Full Text PDFPolygenic Prediction of Recurrent Events After Early-Onset Myocardial Infarction.
Circ Genom Precis Med
December 2024
British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care (M.A.,S.A.L., L.G.K., M.K., M.I., E.D.A., A.S.B.).
Background: Myocardial infarction (MI) is a complex disease caused by both lifestyle and genetic factors. This study aims to investigate the predictive value of genetic risk, in addition to traditional cardiovascular risk factors, for recurrent events following early-onset MI.
Methods: The Italian Genetic Study of Early-Onset Myocardial Infarction is a cohort study enrolling patients with MI before 45 years.
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