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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/29773150/anxiety-depression-and-health-related-quality-of-life-in-heterozygous-familial-hypercholesterolemia-a-systematic-review-and-meta-analysis
#1
Leo E Akioyamen, Jacques Genest, Shubham D Shan, Happy Inibhunu, Anna Chu, Jack V Tu
BACKGROUND: Heterozygous familial hypercholesterolemia (FH) is a common genetic disease predisposing affected individuals to a high risk of cardiovascular disease. Yet, considerable uncertainty exists regarding its impact on psychosocial wellbeing. OBJECTIVES: We performed a systematic review and meta-analysis of the association between FH and symptoms of anxiety and depression, and health-related quality of life (HRQL). METHODS: We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, PsycINFO, and PubMed for peer-reviewed literature published in English between January 1, 1990 and January 1, 2018...
June 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29770231/cardiovascular-outcomes-of-pcsk9-inhibitors-with-special-emphasis-on-its-effect-beyond-ldl-cholesterol-lowering
#2
REVIEW
Dhrubajyoti Bandyopadhyay, Kumar Ashish, Adrija Hajra, Arshna Qureshi, Raktim K Ghosh
PCSK9 inhibitors, monoclonal antibodies, are novel antihypercholesterolemic drugs. FDA first approved them in July 2015. PCSK9 protein (692-amino acids) was discovered in 2003. It plays a major role in LDL receptor degradation and is a prominent modulator in low-density lipoprotein cholesterol (LDL-C) metabolism. PCSK9 inhibitors are monoclonal antibodies that target PCSK9 protein in liver and inhibiting this protein leads to drastically lowering harmful LDL-C level in the bloodstream. Despite widespread use of the statin, not all the high-risk patients were able to achieve targeted level of LDL-C...
2018: Journal of Lipids
https://www.readbyqxmd.com/read/29760789/higher-cardiometabolic-risk-in-idiopathic-versus-autoimmune-type-1-diabetes-a-retrospective-analysis
#3
Valentina Guarnotta, Enrica Vigneri, Giuseppe Pillitteri, Alessandro Ciresi, Giuseppe Pizzolanti, Carla Giordano
Background: Idiopathic type 1 diabetes mellitus (IDM) is characterized by an onset with insulinopenia and ketoacidosis with negative β-cell autoimmunity markers and lack of association with HLA. The aim of the study is to compare the clinical and metabolic parameters, the macro and microvascular complications, the adipose tissue dysfunction and the insulin secretion and sensitivity indexes in patients with IDM and autoimmune type 1 diabetes mellitus (ADM) at clinical onset. Methods: Thirty patients with IDM and 30 with ADM, matched for age and gender, were retrospectively analyzed...
2018: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29758414/role-of-pcsk9-in-lipid-metabolism-and-atherosclerosis
#4
REVIEW
Xiao-Long Lin, Le-Le Xiao, Zhi-Han Tang, Zhi-Sheng Jiang, Mi-Hua Liu
Elevated plasma low-density lipoprotein cholesterol (LDL-C) is an important risk factor for cardiovascular diseases. Statins are the most widely used therapy for patients with hyperlipidemia. However, a significant residual cardiovascular risk remains in some patients even after maximally tolerated statin therapy. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a new pharmacologically therapeutic target for decreasing LDL-C. PCSK9 reduces LDL intake from circulation by enhancing LDLR degradation and preventing LDLR recirculation to the cell surface...
May 11, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29753733/coronary-computed-tomographic-angiography-findings-and-their-therapeutic-implications-in-asymptomatic-patients-with-familial-hypercholesterolemia-lessons-from-the-safeheart-study
#5
Leopoldo Pérez de Isla, Rodrigo Alonso, Ovidio Muñiz-Grijalvo, José Luis Díaz-Díaz, Daniel Zambón, José Pablo Miramontes, Francisco Fuentes, José Juan Gómez de Diego, Aurora González-Estrada, Nelva Mata, Adriana Saltijeral, Manuel Barreiro, Marta Tomás, Raimundo de Andrés, Rosa Argüeso, Maria Pilar Serrano Gotarredona, Silvia Navarro Herrero, Rosario J Perea Palazón, Teresa M de Caralt, Luisa Arrojo Suárez de Centi, Svetlana Zhilina, Simona Espejo Pérez, Teresa Padró, Pedro Mata
BACKGROUND: Familial hypercholesterolemia (FH) confers an increased risk of premature atherosclerotic disease. Coronary computed tomographic angiography (CTA) can assess preclinical coronary atherosclerosis. OBJECTIVES: To describe coronary CTA findings in asymptomatic molecularly defined FH individuals, to identify those factors related to its presence and extension, and to assess the impact of these results in patients' care and estimated risk. METHODS: Four hundred and forty individuals with FH, without clinical cardiovascular disease, were consecutively enrolled and underwent a coronary CTA that was used to analyze coronary atherosclerosis based on coronary calcium score (CCS), sum of stenosis severity, and plaque composition sum (PCS)...
April 17, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29747383/current-role-of-lipoprotein-apheresis-in-the-treatment-of-high-risk-patients
#6
REVIEW
Ulrich Julius
Lipoprotein apheresis (LA) is a therapeutic approach to save the lives of patients who are at an extremely high risk of developing cardiovascular events (CVE), especially after all other therapeutic options were not tolerated, or appeared not to be effective enough. Homozygous familial hypercholesterolemia represents a clear indication to start LA therapy. Another recognized indication is a severe hypercholesterolemia, which induced CVE, often in association with other risk factors. In the last years, an expressive elevation of lipoprotein(a) (Lp(a)) emerged as an indication for LA...
May 9, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29747326/-current-status-and-the-consistency-analysis-of-using-two-criteria-for-decision-making-of-aspirin-use-for-the-primary-prevention-of-ischemic-cardiovascular-disease-in-outpatients
#7
H J Zuo, L Q Deng, J W Wang
Objective: To compare the consistency and accuracy of using 2 criteria for decision making of aspirin use for the primary prevention of ischemic cardiovascular disease (ISCVD) and explore the current status and related factors of aspirin use for the primary prevention of ISCVD in Chinese outpatients. Methods: This cross-sectional study enrolled 3 018 outpatients with hypertension, diabetes, or hypercholesterolemia, who visited the General Practice (GP) clinics of Anzhen hospital in Beijing from September to December 2015 were enrolled in...
April 24, 2018: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/29739236/risk-factor-assessment-in-a-greek-cohort-of-patients-with-large-abdominal-aortic-aneurysms
#8
Georgios Makrygiannis, Evanthia Mourmoura, Konstantinos Spanos, Nikolaos Roussas, Helena Kuivaniemi, Natzi Sakalihasan, Aspasia Tsezou, Athanasios Giannoukas
Environmental and genetic risk factors contribute to the etiology of abdominal aortic aneurysms (AAAs). Matrix metalloproteinases (MMPs) have been associated with the pathophysiology of AAAs. A prospective, nonrandomized case-control study was undertaken to investigate the risk factors for large AAAs (≥5.5 cm) among 175 male Greek AAA patients and to compare the results with a cohort of 166 male controls free from any aortic dilatation, as confirmed by ultrasonography from an existing AAA screening program in the same region...
January 1, 2018: Angiology
https://www.readbyqxmd.com/read/29737876/microrna-221-222-expression-in-atherosclerotic-coronary-artery-plaque-and-peripheral-blood
#9
Aslıhan Esra Bildirici, Serdal Arslan, Nil Özbilüm Şahin, Öcal Berkan, Osman Beton, Mehmet Birhan Yılmaz
BACKGROUND: Atherosclerosis is a disease of the arterial wall with predilection to some sites on others. MicroRNAs (miRNAs) are a class of the non-coding RNAs regulating the target gene expression at post-transcriptional level. Different miRNAs were found at distinct stages of plaque development and expression of miRNAs' might play an important role in the local behaviour of atherosclerotic plaques. OBJECTIVE: We aimed to investigate and compare mirR-221/222 expression levels in tissues and in circulation in patients with and without overt atherosclerosis...
May 8, 2018: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/29731018/can-we-eliminate-low-density-lipoprotein-cholesterol-related-cardiovascular-events-through-more-aggressive-primary-prevention-therapy
#10
G B John Mancini, Robert A Hegele
Intravascular levels of low-density lipoprotein cholesterol (LDL-C) at approximately ≤ 0.6 mmol/L are likely to minimize, and perhaps eliminate, LDL-C-related vascular toxicity while having no effect on essential, intracellular cholesterol homeostatic pathways, according to accumulated knowledge from basic science. Randomized clinical trials, observational reports, and Mendelian randomization trials are also forcing a reconsideration of what "normal" LDL-C means. Recent trials of secondary prevention have substantiated that such levels are safe and associated with a decreased risk of cardiovascular events (CVEs) compared with patients with higher levels of LDL-C...
May 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29727688/profiling-and-leveraging-relatedness-in-a-precision-medicine-cohort-of-92-455-exomes
#11
Jeffrey Staples, Evan K Maxwell, Nehal Gosalia, Claudia Gonzaga-Jauregui, Christopher Snyder, Alicia Hawes, John Penn, Ricardo Ulloa, Xiaodong Bai, Alexander E Lopez, Cristopher V Van Hout, Colm O'Dushlaine, Tanya M Teslovich, Shane E McCarthy, Suganthi Balasubramanian, H Lester Kirchner, Joseph B Leader, Michael F Murray, David H Ledbetter, Alan R Shuldiner, George D Yancoupolos, Frederick E Dewey, David J Carey, John D Overton, Aris Baras, Lukas Habegger, Jeffrey G Reid
Large-scale human genetics studies are ascertaining increasing proportions of populations as they continue growing in both number and scale. As a result, the amount of cryptic relatedness within these study cohorts is growing rapidly and has significant implications on downstream analyses. We demonstrate this growth empirically among the first 92,455 exomes from the DiscovEHR cohort and, via a custom simulation framework we developed called SimProgeny, show that these measures are in line with expectations given the underlying population and ascertainment approach...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29726690/human-genome-evolution-and-development-of-cardiovascular-risk-factors-through-natural-selection
#12
R Poledne, J Zicha
Impressive advances in molecular genetic techniques allow to analyze the effects of natural selection on the development of human genome. For example, the trend towards blonde hair and blue eyes was documented. The approach to analyze possible effects of natural selection on the evolution of recent phenotypes with high risk of cardiovascular disease has not been described yet. A possible effect on the evolution of two main risk factors - hypercholesterolemia and hypertension - is presented. The close relationship of non-HDL cholesterol blood concentration to the proportion of pro-inflammatory macrophages in human visceral adipose tissue might be a result of long-lasting natural selection...
May 4, 2018: Physiological Research
https://www.readbyqxmd.com/read/29720182/spectrum-of-low-density-lipoprotein-receptor-ldlr-mutations-in-a-cohort-of-sri-lankan-patients-with-familial-hypercholesterolemia-a-preliminary-report
#13
C S Paththinige, J R D K Rajapakse, G R Constantine, K P Sem, R R Singaraja, R W Jayasekara, V H W Dissanayake
BACKGROUND: Hypercholesterolemia is a major determinant of cardiovascular disease-associated morbidity and mortality. Mutations in the LDL-receptor (LDLR) gene are implicated in the majority of the cases with familial hypercholesterolemia (FH). However, the spectrum of mutations in the LDLR gene in Sri Lankan patients has not been investigated. The objective of this study was to report the frequency and spectrum of variants in LDLR in a cohort of Sri Lankan patients with FH. METHODS: A series of consecutive patients with FH, diagnosed according to Modified Simon Broome criteria or Dutch Lipid Clinic Network criteria at the University Medical Unit, Colombo, were recruited...
May 2, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29714125/multivariate-analysis-for-coronary-heart-disease-in-heterozygote-familial-hypercholesterolemia-patients
#14
Juan Francisco Sánchez Muñoz-Torrero, Maria D Rivas, Jose Zamorano, Pedro Pablo Joya-Vázquez, Leopoldo Perez de Isla, Teresa Padro, Pedro Mata, The Safeheart Investigators
AIM: rs599839 polymorphism has been related with low levels of cholesterol and reduced coronary heart disease (CHD). METHODS: We investigated the frequency of this polymorphism in patients with heterozygous familial hypercholesterolemia (HeFH) in the Spanish familial hypercholesterolemia cohort, 230 with and 202 without CHD. Results & discussion: A lower G-allele prevalence was observed in HeFH patients with CHD with respect to controls, 35 versus 45%, respectively (p = 0...
March 2018: Personalized Medicine
https://www.readbyqxmd.com/read/29712723/modification-by-isolevuglandins-highly-reactive-%C3%AE-ketoaldehydes-deleteriously-alters-hdl-structure-and-function
#15
Linda S May-Zhang, Valery Yermalitsky, Jiansheng Huang, Tiffany Pleasent, Mark S Borja, Michael N Oda, W Gray Jerome, Patricia G Yancey, MacRae F Linton, Sean S Davies
Cardiovascular disease (CVD) risk depends on HDL function, not HDL-cholesterol (HDL-C). Isolevuglandins (IsoLGs) are lipid dicarbonyls that react with lysine residues of proteins and phosphatidylethanolamine. IsoLG adducts are elevated in atherosclerosis. The consequences of IsoLG modification of HDL have not been studied. We hypothesized that IsoLG modification of apoA-I deleteriously alters HDL function. We determined the effect of IsoLG on HDL structure-function, and whether pentylpyridoxamine (PPM), a dicarbonyl scavenger, can preserve HDL function...
April 30, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29708923/predicting-cardiovascular-disease-in-familial-hypercholesterolemia
#16
Martine Paquette, Alexis Baass
PURPOSE OF REVIEW: Familial hypercholesterolemia is a frequent genetic disease associated with a high lifetime risk of cardiovascular disease (CVD). Statins are the cornerstone of treatment of familial hypercholesterolemia; however, with the advent of novel LDL-cholesterol lowering therapies, it has become necessary to identify familial hypercholesterolemia subjects presenting a significant residual CVD risk. The aim of this review is to provide an update on the recent literature concerning cardiovascular risk stratification in familial hypercholesterolemia...
April 26, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29703625/elevated-lipoprotein-a-and-low-density-lipoprotein-cholesterol-as-predictors-of-the-severity-and-complexity-of-angiographic-lesions-in-patients-with-premature-coronary-artery-disease
#17
David Chieng, Jing Pang, Katrina L Ellis, Graham S Hillis, Gerald F Watts, Carl J Schultz
BACKGROUND: Elevated lipoprotein(a) (Lp[a]) and low-density lipoprotein (LDL) cholesterol are important inheritable risk factors for premature coronary artery disease (CAD). Lp(a) mediates cardiovascular risk through prothrombotic, proinflammatory, and proatherogenic properties. The association of Lp(a) and LDL cholesterol with angiographic disease severity and complexity in patients with premature CAD has yet to be established. OBJECTIVE: To investigate the relationship of Lp(a) and LDL cholesterol with the severity and complexity of coronary artery lesions using the SYNergy between percutaneous coronary intervention with TAXUS and Cardiac Surgery (SYNTAX) and Gensini scores, in patients with premature CAD...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29693183/genetic-analysis-in-a-compound-heterozygote-family-with-familial-hypercholesterolemia
#18
Fang Wang, Qin Fan, Rong Tao, Gang Gu, Ruiyan Zhang, Rui Xi
Homozygous familial hypercholesterolemia (FH) is rare, with an incidence of ~one in a million and commonly presents with a genetic mutation. The genetic variations of families with FH were clinically analyzed to investigate the association between the phenotype and genotype of patients. Direct sequencing was conducted for the proband and her parents to detect mutations in the fragment of 18 exons of the low‑density lipoprotein receptor (LDLR) and apolipoprotein B100 Q3500R in the peripheral blood genomic DNA...
April 20, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29685591/cardiovascular-event-reduction-with-pcsk9-inhibition-among-1578-patients-with-familial-hypercholesterolemia-results-from-the-spire-randomized-trials-of-bococizumab
#19
Paul M Ridker, Lynda M Rose, John J P Kastelein, Raul D Santos, Caimiao Wei, James Revkin, Carla Yunis, Jean-Claude Tardif, Charles L Shear
BACKGROUND: Familial hypercholesterolemia (FH) is a dominant genetic disorder associated with elevated low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic events. Although therapeutic monoclonal antibodies that inhibit proprotein convertase subtilisin-kexin type 9 (PCSK9) are indicated for LDL-C reduction among adult patients with FH, placebo-controlled outcome data among FH patients are scant. OBJECTIVE: Directly compare the efficacy of PCSK9 inhibition as compared to placebo on hard cardiovascular outcomes in FH patients enrolled in the Studies of PCSK9 Inhibition and the Reduction of vascular Events (SPIRE) program...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29682581/diet-induced-abdominal-obesity-metabolic-changes-and-atherosclerosis-in-hypercholesterolemic-minipigs
#20
Ahmed Ludvigsen Al-Mashhadi, Christian Bo Poulsen, Karin von Wachenfeldt, Anna-Karin Robertson, Jacob Fog Bentzon, Lars Bo Nielsen, Jesper Thygesen, Lars Poulsen Tolbod, Jens Rolighed Larsen, Søren Kragh Moestrup, Björn Frendéus, Brynjulf Mortensen, Ludovic Drouet, Rozh H Al-Mashhadi, Erling Falk
Background: Obesity and metabolic syndrome (MetS) are major risk factors for atherosclerotic diseases; however, a causal link remains elusive. Animal models resembling human MetS and its complications, while important, are scarce. We aimed at developing a porcine model of human MetS. Methods: Forty pigs with familial hypercholesterolemia were fed a high fat + fructose diet for 30 weeks. Metabolic assessments and subcutaneous fat biopsies were obtained at 18 and 30 weeks, and fat distribution was assessed by CT-scans...
2018: Journal of Diabetes Research
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