Detección de hipercolesterolemia familiar a través de datos analíticos centralizados. Programa DETECTA HF HUELVA
TL;DR: In this paper, the authors determine the capacidad of un laboratorio centralizado for diagnostico de hipercolesterolemia familiar mediante the creación de un programa de salud for el cribado poblacional in la provincia de Huelva.
About: This article is published in Endocrinología, Diabetes y Nutrición.The article was published on 2021-08-01. It has received 3 citations till now.
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TL;DR: In this article , the authors designed a prospective study to analyze the incidence of heart disease detected by a focused cardiac ultrasound program within a stroke care network with cardiac imaging units and to identify the outcomes of detected structural heart disease at 1 year of follow-up.
Abstract: Recientemente los neurólogos han comenzado a realizar ecocardioscopia para la detección de cardiopatías en pacientes con ictus isquémico, lo cual requiere un proceso previo de formación acreditada. Se diseñó un estudio prospectivo con el objetivo de analizar la incidencia de cardiopatías detectadas por ecocardioscopia en una unidad de ictus integrada en red con una Unidad de Imagen Cardiaca y el pronóstico de la detección de cardiopatía estructural a 1 año de seguimiento.Se incluyeron los casos que ingresaron por ictus isquémico o accidente isquémico transitorio en un hospital clínico universitario de 2017 a 2021 y fueron evaluados mediante ecocardioscopia. Se estudió la presencia de cardiopatía estructural y cardiopatía embolígena. Se analizaron los eventos cardiovasculares (ECV) durante el primer año de seguimiento.Se realizó ecocardioscopia a 706 pacientes. Se detectó cardiopatía estructural en el 52,1% de los casos y cardiopatía embolígena en el 31,9%. El 5,49% había sufrido ECV al año de seguimiento. La presencia de cardiopatía estructural de novo se asoció de manera independiente con una mayor probabilidad de ECV (HR = 1,72; IC95%, 1,01-2,91; p = 0,046).La ecocardioscopia dentro de un proceso integrado en red de atención al ictus con unidades de imagen cardiaca es una técnica accesible y de alta rentabilidad diagnóstica. Su uso permite actuaciones clínicas y terapéuticas directas en la prevención de nuevas embolias cerebrales y otros ECV en este grupo de pacientes.Recently, neurologists have begun to perform focused cardiac ultrasound for the detection of a cardiac source of embolism in stroke patients, requiring them to undergo a prior accredited training process. We designed a prospective study to analyze the incidence of heart disease detected by a focused cardiac ultrasound program within a stroke care network with cardiac imaging units and to identify the outcomes of detected structural heart disease at 1 year of follow-up.We included patients admitted to a university hospital for ischemic stroke or a transient ischemic attack between 2017 and 2021 who were evaluated by focused cardiac ultrasound. We studied the presence of structural heart disease and cardioembolic sources. We analyzed cardiovascular events (CVE) during the first year of follow-up.Focused cardiac ultrasound was performed in 706 patients. Structural heart disease was detected in 52.1% and a cardioembolic source in 31.9%. Adverse CVE occurred in 5.49% of the patients in the first year of follow-up. The presence of de novo structural heart disease was independently associated with a higher probability of adverse CVE (HR, 1.72; 95%CI, 1.01- 2.91; P = .046).Focused cardiac ultrasound within a stroke care network with cardiac imaging units is an accessible technique with high diagnostic yield. Its use allows clinical and therapeutic actions in the prevention of stroke recurrences and other CVEs in this group of patients.
TL;DR: Despite its limitations, systematic collaboration between clinical laboratories and lipid units allows for the identification of large numbers of patients with a phenotypic or genetic diagnosis of FH, which will reduce their vascular risk.
Abstract: Background: Familial hypercholesterolemia (FH) is clearly underdiagnosed and undertreated. The aim of this present study is to assess the benefits of FH screening through a joint national program implemented between clinical laboratories and lipid units. Methods: All clinical laboratory tests from 1 January 2017 to 31 December 2018 were reviewed, and those with LDL cholesterol (LDL-C) levels >250 mg/dl were identified in subjects >18 years of age of both sexes. Once secondary causes had been ruled out, the treating physician was contacted and advised to refer the patient to an LU to perform the Dutch Lipid Clinic Network score and to request genetic testing if the score was ≥6 points. Next Generation Sequencing was used to analyse the promoter and coding DNA sequences of four genes associated with FH (LDLR, APOB, PCSK9, APOE) and two genes that have a clinical overlap with FH characteristics (LDLRAP1 and LIPA). A polygenic risk score based on 12 variants was also obtained. Results: Of the 3,827,513 patients analyzed in 26 centers, 6,765 had LDL-C levels >250 mg/dl. Having ruled out secondary causes and known cases of FH, 3,015 subjects were included, although only 1,205 treating physicians could be contacted. 635 patients were referred to an LU and genetic testing was requested for 153 of them. This resulted in a finding of sixty-seven pathogenic variants for FH, 66 in the LDLR gene and one in APOB. The polygenic risk score was found higher in those who had no pathogenic variant compared to those with a pathogenic variant. Conclusion: Despite its limitations, systematic collaboration between clinical laboratories and lipid units allows for the identification of large numbers of patients with a phenotypic or genetic diagnosis of FH, which will reduce their vascular risk. This activity should be part of the clinical routine.
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TL;DR: When added to statin therapy, ezetimibe resulted in incremental lowering of LDL cholesterol levels and improved cardiovascular outcomes and lowering LDL cholesterol to levels below previous targets provided additional benefit.
Abstract: RESULTS The median time-weighted average LDL cholesterol level during the study was 53.7 mg per deciliter (1.4 mmol per liter) in the simvastatin–ezetimibe group, as compared with 69.5 mg per deciliter (1.8 mmol per liter) in the simvastatin-monotherapy group (P<0.001). The Kaplan–Meier event rate for the primary end point at 7 years was 32.7% in the simvastatin–ezetimibe group, as compared with 34.7% in the simvastatin-monotherapy group (absolute risk difference, 2.0 percentage points; hazard ratio, 0.936; 95% confidence interval, 0.89 to 0.99; P = 0.016). Rates of prespecified muscle, gallbladder, and hepatic adverse effects and cancer were similar in the two groups. CONCLUSIONS When added to statin therapy, ezetimibe resulted in incremental lowering of LDL cholesterol levels and improved cardiovascular outcomes. Moreover, lowering LDL cholesterol to levels below previous targets provided additional benefit. (Funded by Merck; IMPROVE-IT ClinicalTrials.gov number, NCT00202878.) abstr act
2,998 citations
TL;DR: With an overall prevalence of 1:311, FH is among the commonest genetic disorders in the GP, similarly present across different regions of the world, and is more frequent among those with ASCVD.
Abstract: Background: Contemporary studies suggest that familial hypercholesterolemia (FH) is more frequent than previously reported and increasingly recognized as affecting individuals of all ethnicities an...
252 citations
TL;DR: Although risk factors for atherosclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described, models for predicting incident ASCVD have not been developed.
Abstract: Background:Although risk factors for atherosclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described, models for predicting incident ASCVD have not been rep
238 citations
TL;DR: The new concept of consensual 3D speed maps allows the essence out of large amounts of link speed observations and reveals a global and previously mostly hidden picture of traffic dynamics at the whole city scale, which may be more regular and predictable than expected.
Abstract: In this paper, we investigate the day-to-day regularity of urban congestion patterns. We first partition link speed data every 10 min into 3D clusters that propose a parsimonious sketch of the congestion pulse. We then gather days with similar patterns and use consensus clustering methods to produce a unique global pattern that fits multiple days, uncovering the day-to-day regularity. We show that the network of Amsterdam over 35 days can be synthesized into only 4 consensual 3D speed maps with 9 clusters. This paves the way for a cutting-edge systematic method for travel time predictions in cities. By matching the current observation to historical consensual 3D speed maps, we design an efficient real-time method that successfully predicts 84% trips travel times with an error margin below 25%. The new concept of consensual 3D speed maps allows us to extract the essence out of large amounts of link speed observations and as a result reveals a global and previously mostly hidden picture of traffic dynamics at the whole city scale, which may be more regular and predictable than expected.
221 citations
Imperial College London1, Central European Institute of Technology2, University of the Witwatersrand3, University of São Paulo4, University of Manchester5, University of Western Australia6, Saint Joseph's University7, Hamad Medical Corporation8, Sultan Qaboos University9, Medical University of Vienna10, Oslo University Hospital11, Institute of Chartered Accountants of Nigeria12, Gdańsk Medical University13, Hebrew University of Jerusalem14, Ljubljana University Medical Centre15, McGill University Health Centre16, Ege University17, University of Belgrade18, National University of Singapore19, University of Latvia20, University of Ioannina21, Capital Medical University22, National Health Laboratory Service23, Heidelberg University24, Kyrgyz State Medical Academy25, University of Basel26, Academy of Medical Sciences, United Kingdom27, Universiti Teknologi MARA28, University of Copenhagen29, University of Debrecen30, Vilnius University31, Sofia Medical University32, University of Zagreb33, University of Benin34, Mashhad University of Medical Sciences35, United Arab Emirates University36, National Taiwan University37, Khoo Teck Puat Hospital38, University of Malta39, The Chinese University of Hong Kong40, National Institutes of Health41, Universidad Autónoma de Guadalajara42, Tallinn University of Technology43, Slovak Medical University44, University of Helsinki45, Osaka University46, Medical University of Łódź47, Linköping University48, University of the Philippines49, Technische Universität München50, Hacettepe University51, Nanyang Technological University52, University of Milan53
TL;DR: FH is a recognised public health concern, with overall suboptimal identification and under-treatment, and efforts and initiatives to improve FH knowledge and management are underway, but support from health authorities and better funding are greatly needed.
161 citations