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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28102978/pretreatment-cardiometabolic-status-in-youth-with-early-onset-psychosis-baseline-results-from-the-tea-trial
#1
Karsten G Jensen, Christoph U Correll, Ditte Rudå, Dea G Klauber, Marie Stentebjerg-Olesen, Birgitte Fagerlund, Jens Richardt Møllegaard Jepsen, Anders Fink-Jensen, Anne Katrine Pagsberg
OBJECTIVE: To describe pretreatment cardiometabolic constitution in children and adolescents with first-episode psychosis (FEP). METHODS: Baseline cardiometabolic assessment was performed in youths aged 12-17 years with FEP entering the Tolerability and Efficacy of Antipsychotics (TEA) trial and matched healthy controls. Patients were included between June 10, 2010, and January 29, 2014. ICD-10 was used as the diagnostic classification system. Cardiometabolic risk markers were compared between patients versus controls and antipsychotic-naive versus antipsychotic-exposed patients...
January 17, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28101197/multiple-large-xanthomas-a-case-report
#2
Chen Zhao, Mingxiang Kong, Li Cao, Qiong Zhang, Yong Fang, Weiwei Ruan, Xiaofan Dou, Xiaohui Gu, Qing Bi
A 23-year-old male patient presented with multiple large masses in his elbows, buttocks, knees, Achilles tendons, feet, shoulders and hands. The large masses in the elbows and buttocks measured ~6×5×5 cm and ~7×5×4 cm, respectively. The patient presented with an elevated level of low-density lipoprotein cholesterol, and had been previously diagnosed with homozygous familial hypercholesterolemia (FH) and multiple xanthomas. Local surgical excisions were performed to remove the massive xanthomas from the elbows and buttocks, and histological analysis of the surgical specimens confirmed the previous diagnosis of homozygous FH (HoFH)...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28096572/current-and-emerging-treatments-for-hypercholesterolemia-a-focus-on-statins-and-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-for-perioperative-clinicians
#3
REVIEW
Terrence L Trentman, Steven G Avey, Harish Ramakrishna
Statins are a mainstay of hyperlipidemia treatment. These drugs inhibit the enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase and have beneficial effects on atherosclerosis including plaque stabilization, reduction of platelet activation, and reduction of plaque proliferation and inflammation. Statins also have a benefit beyond atherosclerotic plaque, including anticoagulation, vasodilatation, antioxidant effects, and reduction of mediators of inflammation. In the perioperative period, statins appear to contribute to improved outcomes via these mechanisms...
October 2016: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/28070551/data-on-circulating-leukocyte-subpopulations-and-inflammatory-proteins-in-children-with-familial-hypercholesterolemia-and-healthy-children
#4
Jacob J Christensen, Liv Osnes, Bente Halvorsen, Kjetil Retterstøl, Martin P Bogsrud, Cecilie Wium, Arne Svilaas, Ingunn Narverud, Stine M Ulven, Pål Aukrust, Kirsten B Holven
The data in this relies on a previous publication: "Altered leukocyte distribution under hypercholesterolemia: a cross-sectional study in children with familial hypercholesterolemia" (Christensen et al. 2016) [1]. In the present paper, whole blood leukocyte distribution and plasma inflammatory proteins were measured for association with cholesterol concentration and CRP in children with familial hypercholesterolemia (FH) and healthy children.
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28059950/phenotype-vs-genotype-in-severe-familial-hypercholesterolemia-what-matters-most-for-the-clinician
#5
Raul D Santos
PURPOSE OF THE REVIEW: Familial hypercholesterolemia is associated with a high lifetime risk of atherosclerotic cardiovascular disease (ASCVD). However, this risk is variable. This review evaluates recent evidence related to ASCVD risk stratification in familial hypercholesterolemia considering aspects of phenotype and genotype. RECENT FINDINGS: The heterogeneity in clinical, laboratory characteristics, and in ASCVD risk in both homozygous and heterozygous familial hypercholesterolemia individuals in part can be attributed to the type of molecular defect...
January 5, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28052405/myocardial-layer-specific-analysis-in-patients-with-heterozygous-familial-hypercholesterolemia-using-speckle-tracking-echocardiography
#6
Zhaoting Leng, Rongjuan Li, Yijia Li, Lvya Wang, Yueli Wang, Ya Yang
OBJECTIVE: Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism, causing premature coronary heart disease (CHD) due to accelerated atherosclerosis from birth, and the study of left ventricular (LV) function of this disease is seldom. The purpose of this study was to explore the value of layer-specific strain on assessing the early damage of LV function in asymptomatic and left ventricular ejection fraction (LVEF) well-preserved patients with heterozygous FH (HeFH)...
January 3, 2017: Echocardiography
https://www.readbyqxmd.com/read/28034582/an-evidence-based-guide-to-cholesterol-lowering-guidelines
#7
REVIEW
David D Waters, S Matthijs Boekholdt
Since 2014, guidelines for the management of lipid disorders to reduce cardiovascular (CV) events have been updated in the United States, the United Kingdom, Europe, and Canada. Some of these guidelines are almost entirely evidence-based whereas others are a mix of evidence and expert opinion. Guidelines differ on such simple questions as to whether blood samples should be fasting or nonfasting, and whether low-density lipoprotein cholesterol (LDL-C) or another lipid parameter should be the primary focus of treatment...
October 24, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28030655/percutaneous-coronary-intervention-with-bioresorbable-scaffolds-in-a-young-child
#8
Tamim M Nazif, Sanjog Kalra, Ziad A Ali, Dimitrios Karmpaliotis, Mariel E Turner, Thomas J Starc, Yang Cao, Charles C Marboe, Michael B Collins, Martin B Leon, Ajay J Kirtane
Importance: Although much less frequent than in adults, coronary artery disease requiring revascularization may develop in children because of homozygous familial hypercholesterolemia or other underlying conditions. Percutaneous coronary intervention (PCI) with a bioresorbable scaffold (BRS) may have advantages over metallic coronary stents in this population. Objective: To present a case of the successful treatment of unstable, multivessel coronary artery disease in a child with PCI with BRS implantation...
December 28, 2016: JAMA Cardiology
https://www.readbyqxmd.com/read/28030379/genotype-guided-diagnosis-in-familial-hypercholesterolemia-population-burden-and-cascade-screening
#9
Paul N Hopkins
PURPOSE OF REVIEW: In this review, how genetic testing has provided major new insights regarding the population burden of familial hypercholesterolemia (FH) are reviewed. In addition, the role of genetic testing in cascade screening for FH and an updated Make Early Diagnoses to Prevent Early Death in MEDical PEDigrees algorithm for the clinical diagnosis of FH are presented. RECENT FINDINGS: For the first time, recent application of genetic testing for FH in large populations has provided firm estimates of the prevalence of FH (at least one in 220) in the USA...
December 24, 2016: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28030378/does-lifestyle-contribute-to-disease-severity-in-patients-with-inherited-lipid-disorders
#10
Benoit J Arsenault, Nicolas Perrot, Patrick Couture
PURPOSE OF REVIEW: Patients with familial hypercholesterolemia, familial combined hyperlipidemia and hyperlipoprotein(a) are at high cardiovascular risk. Increasing evidence suggest that lifestyle-related risk factors such as physical inactivity, and poor diet quality could influence cardiovascular risk in these patients. Our objective is to review the evidence that supports the role of lifestyle-related factors in the prediction of cardiovascular risk in patients with inherited lipid disorders...
December 24, 2016: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28028493/mutation-detection-in-chinese-patients-with-familial-hypercholesterolemia
#11
Ran Du, Liang-Liang Fan, Min-Jie Lin, Zhi-Jian He, Hao Huang, Ya-Qin Chen, Jing-Jing Li, Kun Xia, Shui-Ping Zhao, Rong Xiang
BACKGROUND: Familial hypercholesterolemia (FH) is the first molecularly and clinically characterized genetic disease of lipid metabolism. It is an autosomal dominant disorder with significantly elevated levels of total cholesterol and low density of lipoprotein cholesterol in serum, which would lead to extensive xanthomas and premature coronary heart disease. Mutations in low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 and Apo lipoprotein B-100 (APOB) have been identified to be the underlying cause of this disease...
2016: SpringerPlus
https://www.readbyqxmd.com/read/28025424/morphological-features-of-coronary-plaques-in-whhlmi-rabbits-oryctolagus-cuniculus-an-animal-model-for-familial-hypercholesterolemia
#12
Satoshi Yamada, Tomonari Koike, Takayuki Nakagawa, Nobue Kuniyoshi, Yu Ying, Hiroyuki Itabe, Atsushi Yamashita, Yuji Asada, Masashi Shiomi
In order to examine their suitability for studies on coronary atherosclerosis, we evaluated the features of coronary atherosclerotic plaques in myocardial infarction-prone Watanabe heritable hyperlipidemic (WHHLMI) rabbits, a spontaneous animal model for coronary atherosclerosis and myocardial infarction. Coronary segments of the hearts of 187 WHHLMI rabbits (10-29 months old) were sectioned serially and stained histopathologically and immunohistologically. Progression of coronary lesions was prominent in rabbits that had died suddenly...
December 27, 2016: Experimental Animals
https://www.readbyqxmd.com/read/28024183/altered-leukocyte-distribution-under-hypercholesterolemia-a-cross-sectional-study-in-children-with-familial-hypercholesterolemia
#13
Jacob J Christensen, Liv T Osnes, Bente Halvorsen, Kjetil Retterstøl, Martin P Bogsrud, Cecilie Wium, Arne Svilaas, Ingunn Narverud, Stine M Ulven, Pål Aukrust, Kirsten B Holven
BACKGROUND AND AIMS: Children with familial hypercholesterolemia (FH) have elevated LDL cholesterol from the first year of life, and represent a model of early-stage atherosclerosis. Data suggest that adults with FH have alterations in circulating monocyte subpopulations towards a more pro-inflammatory phenotype, but it is not known whether FH children have similar perturbations. In addition, there are no data on the distribution of lymphocyte subpopulations in FH children. The objective of the present study was to characterize the distributions of circulating monocyte and lymphocyte subpopulations in children with FH and healthy, normocholesterolemic children...
December 1, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28012444/carotid-artery-plaques-and-intima-medial-thickness-in-familial-hypercholesteraemic-patients-on-long-term-statin-therapy-a-case-control-study
#14
Sven Bos, Martijne H C Duvekot, Gert-Jan R Ten Kate, Adrie J M Verhoeven, Monique T Mulder, Arend F L Schinkel, Koen Nieman, Gerald F Watts, Eric J G Sijbrands, Jeanine E Roeters van Lennep
BACKGROUND AND AIMS: Statins reduce subclinical atherosclerosis and premature atherosclerotic cardiovascular disease (ASCVD) in patients with familial hypercholesterolemia (FH). However, some FH patients still develop ASCVD despite statin therapy. We compared subclinical atherosclerosis assessed by carotid plaque presence and intima media thickness (C-IMT), in long-term statin-treated FH patients and healthy controls. Furthermore, we analysed whether carotid ultrasonography findings associated with subclinical coronary atherosclerosis...
December 2, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28008010/genetic-identification-of-familial-hypercholesterolemia-within-a-single-u-s-health-care-system
#15
Noura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, Eric A Wright, Dustin N Hartzel, Claudia Gonzaga-Jauregui, Colm O'Dushlaine, Joseph B Leader, H Lester Kirchner, D'Andra M Lindbuchler, Marci L Barr, Monica A Giovanni, Marylyn D Ritchie, John D Overton, Jeffrey G Reid, Raghu P R Metpally, Amr H Wardeh, Ingrid B Borecki, George D Yancopoulos, Aris Baras, Alan R Shuldiner, Omri Gottesman, David H Ledbetter, David J Carey, Frederick E Dewey, Michael F Murray
Familial hypercholesterolemia (FH) remains underdiagnosed despite widespread cholesterol screening. Exome sequencing and electronic health record (EHR) data of 50,726 individuals were used to assess the prevalence and clinical impact of FH-associated genomic variants in the Geisinger Health System. The estimated FH prevalence was 1:256 in unselected participants and 1:118 in participants ascertained via the cardiac catheterization laboratory. FH variant carriers had significantly increased risk of coronary artery disease...
December 23, 2016: Science
https://www.readbyqxmd.com/read/28006722/new-insights-into-the-effects-of-onion-consumption-on-lipid-mediators-using-a-diet-induced-model-of-hypercholesterolemia
#16
Diana González-Peña, Antonio Checa, Begoña de Ancos, Craig E Wheelock, Concepción Sánchez-Moreno
The levels and roles of lipid mediators can be modified in response to nutritional stimuli. The aim of this study was to investigate shifts in oxylipin and sphingolipid profiles stimulated by a hypercholesterolemic (HC) diet along with the modulating effects of onion introduced as an antioxidant functional ingredient characterized in the diet (HCO). Oxylipin and sphingolipid profiles were determined in plasma and tissues from Wistar rats using LC-MS/MS. Plasma ω-3 and ω-6 PUFA-derived oxylipins decreased in rats after 7 weeks of HC feeding, but did not evidence a further shift with HCO diet...
December 9, 2016: Redox Biology
https://www.readbyqxmd.com/read/27998977/a-novel-mechanism-causing-familial-hypercholesterolemia-the-proprotein-convertase-subtilisin-kexin-type-9-resistant-arg410ser-ldl-receptor-mutation
#17
Delia Susan-Resiga, Emmanuelle Girard, Robert Scott Kiss, Rachid Essalmani, Josée Hamelin, Marie-Claude Asselin, Zuhier Awan, Chutikarn Butkinaree, Alexandre Fleury, Armand Soldera, Yves L Dory, Alexis Baass, Nabil G Seidah
Familial hypercholesterolemia (FH) is characterized by severely elevated low-density lipoprotein (LDL) cholesterol. Herein, we identified an FH patient presenting novel compound heterozygote mutations R410S and G592E of the LDL receptor (LDLR). The patient responded modestly to maximum rosuvastatin plus ezetimibe therapy, even in combination with a PCSK9-monoclonal-antibody injection. Using cell biology and molecular-dynamics simulations, we aimed to define the underlying mechanism(s) by which these LDLR mutations affect LDL metabolism and lead to hypercholesterolemia...
December 20, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27993451/familial-hypercholesterolemia-awareness-appraisal-and-action
#18
EDITORIAL
Jacques Genest
No abstract text is available yet for this article.
November 14, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27993383/old-challenges-and-new-opportunities-in-the-clinical-management-of-heterozygous-familial-hypercholesterolemia-hefh-the-promises-of-pcsk9-inhibitors
#19
REVIEW
Marcello Arca
Heterozygous familial hypercholesterolemia (HeFH) is a common (early estimates suggested a prevalence of 1 in 500 individuals, but recent studies have indicated that it may be higher) genetic disorder characterized by markedly elevated plasma concentrations of low-density lipoprotein cholesterol (LDL-C). HeFH is associated with an elevated risk of premature coronary heart disease, stroke, and peripheral vascular disease. Despite the availability of reliable diagnostic criteria (high LDL-C levels, family history or premature CHD and hypercholesterolemia, cerebral/peripheral vascular disease, and the presence of tendon xanthomata or presence of arcus cornealis before age of 45), HeFH is underdiagnosed and undertreated worldwide...
September 2, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27987357/micrornas-in-lipoprotein-and-lipid-metabolism-from-biological-function-to-clinical-application
#20
Véronique Desgagné, Luigi Bouchard, Renée Guérin
microRNAs (miRNAs) are short (~22 nucleotides), non-coding, single-stranded RNA molecules that regulate the expression of target genes by partial sequence-specific base-pairing to the targeted mRNA 3'UTR, blocking its translation, and promoting its degradation or its sequestration into processing bodies. miRNAs are important regulators of several physiological processes including developmental and metabolic functions, but their concentration in circulation has also been reported to be altered in many pathological conditions such as familial hypercholesterolemia, cardiovascular diseases, obesity, type 2 diabetes, and cancers...
December 17, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
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