8,704 results match your criteria Hypercholesterolemia Familial


Molecular modeling of LDLR aids interpretation of genomic variants.

J Mol Med (Berl) 2019 Feb 18. Epub 2019 Feb 18.

Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226-0509, USA.

Genetic variants in low-density lipoprotein receptor (LDLR) are known to cause familial hypercholesterolemia (FH), occurring in up to 1 in 200 people (Youngblom E. et al. 1993 and Nordestgaard BG et al. Read More

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http://dx.doi.org/10.1007/s00109-019-01755-3DOI Listing
February 2019

White Matter Hyperintensities in Alzheimer's Disease: A Lesion Probability Mapping Study.

J Alzheimers Dis 2019 Feb 11. Epub 2019 Feb 11.

Department of Neurology, Medical University of Graz, Graz, Austria.

Background/objective: Higher white matter hyperintensity (WMH) load has been reported in Alzheimer's disease (AD) patients in different brain regions when compared to controls. We aimed to assess possible differences of WMH spatial distribution between AD patients and age-matched controls by means of lesion probability maps.

Methods: The present study included MRI scans of 130 probable AD patients with a mean age of 73. Read More

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http://dx.doi.org/10.3233/JAD-180982DOI Listing
February 2019

Fenofibrate potentiates chemosensitivity to human breast cancer cells by modulating apoptosis via AKT/NF-κB pathway.

Onco Targets Ther 2019 23;12:773-783. Epub 2019 Jan 23.

Department of Surgical Oncology, Taizhou Central Hospital (Taizhou University Hospital), Taizhou, Zhejiang, People's Republic of China,

Background: Cumulatively, evidences revealed that fenofibrate used in the therapy of hyperlipidemia and hypercholesterolemia has anti-cancer effect in multiple cancer types. However, its function and underlying mechanism of chemosensitization in breast cancer remain poorly understood.

Materials And Methods: The cytotoxicity of fenofibrate and anti-cancer drugs in breast cancer cells was determined by MTT. Read More

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http://dx.doi.org/10.2147/OTT.S191239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353220PMC
January 2019

SLC22A3 is associated with lipoprotein (a) concentration and cardiovascular disease in familial hypercholesterolemia.

Clin Biochem 2019 Feb 14. Epub 2019 Feb 14.

Lipids, Nutrition and Cardiovascular Prevention Clinic, Montreal Clinical Research Institute, Québec, Canada; Department of Medicine, Division of Experimental Medicine, McGill University, Québec, Canada; Department of Medicine, Division of Medical Biochemistry, McGill University, Québec, Canada. Electronic address:

Background And Aims: Several clinical and genetic factors have been shown to modulate the cardiovascular risk in subjects affected by familial hypercholesterolemia (FH). Genome wide association studies (GWAS) in the general population have identified several single nucleotide polymorphisms (SNPs) significantly associated with the risk of cardiovascular disease (CVD). This include the rs2048327 variant in the SLC22A3 gene. Read More

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http://dx.doi.org/10.1016/j.clinbiochem.2019.02.008DOI Listing
February 2019
1 Read

Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia.

Front Cardiovasc Med 2019 29;6. Epub 2019 Jan 29.

Division of Cardiovascular Medicine and Cardiovascular Institute, Stanford University, Stanford, CA, United States.

Familial Hypercholesterolemia (FH) is an inherited lipid disorder affecting 1 in 220 individuals resulting in highly elevated low-density lipoprotein levels and risk of premature coronary disease. Pathogenic variants causing FH typically involve the LDL receptor (), apolipoprotein B-100 (), and proprotein convertase subtulisin/kexin type 9 genes () and if identified convey a risk of early onset coronary artery disease (ASCVD) of 3- to 10-fold vs. the general population depending on the severity of the mutation. Read More

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http://dx.doi.org/10.3389/fcvm.2019.00005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361766PMC
January 2019

Meals with Similar Fat Content from Different Dairy Products Induce Different Postprandial Triglyceride Responses in Healthy Adults: A Randomized Controlled Cross-Over Trial.

J Nutr 2019 Feb 13. Epub 2019 Feb 13.

Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.

Background: Postprandial lipemia is a risk factor for cardiovascular disease. Dairy products differ in nutrient content and food matrix, and little is known about how different dairy products affect postprandial triglyceride (TG) concentrations.

Objective: We investigated the effect of meals with similar amounts of fat from different dairy products on postprandial TG concentrations over 6 h in healthy adults. Read More

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http://dx.doi.org/10.1093/jn/nxy291DOI Listing
February 2019

Clinical Management of High and Very High Risk Patients with Hyperlipidaemia in Central and Eastern Europe: An Observational Study.

Adv Ther 2019 Feb 13. Epub 2019 Feb 13.

Amgen Bulgaria EOOD, Sofia, Bulgaria.

Introduction: A retrospective/prospective observational study was conducted to explore the current management of hyperlipidaemia in high-risk (HR) and very high risk (VHR) patients in central/eastern Europe and Israel.

Methods: The study enrolled adult patients who were receiving lipid-lowering therapy and attending a specialist (cardiologist/diabetologist/lipidologist) or internist for a routine visit at 57 sites (including academic/specialist/internal medicine centres) across Bulgaria, Croatia, Czech Republic, Israel, Poland, Romania and Slovakia. Data were collected from medical records, for the 12 months before enrolment, with/without ≤ 6 months' additional prospective follow-up. Read More

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http://dx.doi.org/10.1007/s12325-019-0879-1DOI Listing
February 2019

Relationship Between Low-Density Lipoprotein Cholesterol and Lipoprotein(a) Lowering in Response to PCSK9 Inhibition With Evolocumab.

J Am Heart Assoc 2019 Feb;8(4):e010932

1 Knight Cardiovascular Institute Center for Preventive Cardiology Oregon Health & Science University Portland OR.

Background Beyond their potent LDL (low-density lipoprotein) cholesterol ( LDL -C)-lowering efficacy (50-60%), PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitors also reduce Lp(a) (lipoprotein[a]) levels by 25% to 30%, suggesting a 2:1 response ratio. We aimed to characterize the relationship between LDL -C and Lp(a) lowering by evolocumab, a PCSK 9 inhibitor, in a large clinical trial population and to determine the prevalence of concordant/discordant LDL -C and Lp(a) responses to PCSK 9 inhibition. Methods and Results Data were analyzed from 4 randomized, 12-week, multicenter, phase 3 evolocumab trials. Read More

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http://dx.doi.org/10.1161/JAHA.118.010932DOI Listing
February 2019
1 Read

Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk.

Eur J Prev Cardiol 2019 Feb 12:2047487319829746. Epub 2019 Feb 12.

1 Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, Canada.

Aims: Familial hypercholesterolemia (FH) is the most common genetic disorder in medicine, with a prevalence of 1/250. Affected individuals have elevated low-density lipoprotein cholesterol (LDL-C) and an increased lifetime risk of atherosclerotic cardiovascular disease (ASCVD). The diagnosis of FH is based on algorithms that include LDL-C levels, physical manifestations, family history of high LDL-C and premature ASCVD, and, more recently, genetic testing. Read More

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http://dx.doi.org/10.1177/2047487319829746DOI Listing
February 2019

How to identify familial premature myocardial infarction: comparing approaches to identify familial hypercholesterolemia.

J Clin Endocrinol Metab 2019 Feb 7. Epub 2019 Feb 7.

Department of Clinical Biochemistry, Copenhagen University Hospital, Herlev, Denmark.

Context: How best to identify families with premature myocardial infarction is unclear.

Objective: We compared approaches to identify familial premature myocardial infarction in the general population using different familial hypercholesterolemia(FH) criteria and low-density lipoprotein(LDL) cholesterol cut points.

Design And Setting: Clinical and mutation criteria for FH, and LDL cholesterol cut points were applied for identification of familial premature myocardial infarction in 106,732 individuals from the Copenhagen General Population Study. Read More

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http://dx.doi.org/10.1210/jc.2018-02261DOI Listing
February 2019
1 Read

A Japanese case of familial hypercholesterolemia with a novel mutation in the gene.

Clin Pediatr Endocrinol 2019 31;28(1):19-22. Epub 2019 Jan 31.

Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1297/cpe.28.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356093PMC
January 2019

Detection of the benign c.2579C>T (p.A860V) variant of the LDLR gene in a pedigree-based genetic analysis of familial hypercholesterolemia.

J Clin Lipidol 2019 Jan 16. Epub 2019 Jan 16.

Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan. Electronic address:

Background: More than 2500 variants of the low-density lipoprotein receptor (LDLR) gene have been reported in familial hypercholesterolemia (FH). However, the effects of these variants on the pathophysiology of FH have not been fully clarified.

Objective: Our aim was to examine whether the c. Read More

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http://dx.doi.org/10.1016/j.jacl.2019.01.004DOI Listing
January 2019

A systematic approach for successful PCSK9 inhibitor prescribing in clinical practice.

J Clin Lipidol 2019 Jan 16. Epub 2019 Jan 16.

Minneapolis Heart Institute and Minneapolis Heart Institute Foundation, Minneapolis, MN, USA.

Background: Despite patient and provider interest, the use of PCSK9i therapy remains limited in clinical practice. High annual listed prices have created intense payer scrutiny and frequent health plan denials, with national approval rates in the range of 30% to 40%.

Objective: Our goal was to validate the strategies for increasing PCSK9i approval rates and to present a framework for successful PCSK9i prescribing in clinical practice. Read More

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http://dx.doi.org/10.1016/j.jacl.2019.01.005DOI Listing
January 2019

Relationship between porcine miR-20a and its putative target LDLR based on dual luciferase reporter gene assays.

Asian-Australas J Anim Sci 2019 Jan 3. Epub 2019 Jan 3.

Anhui Provincial Laboratory of Local Animal Genetic Resource Conservation and Bio-Breeding, College of Animal Science and Technology, Anhui Agricultural University, Hefei, Anhui 230036, China.

Objective: Mutations in low-density lipoprotein receptor (LDLR), which encodes a critical protein for cholesterol homeostasis and lipid metabolism in mammals, are involved in cardiometabolic diseases, such as familial hypercholesterolemia in pigs. Whereas microRNAs (miRNAs) can control LDLR regulation, their involvement in circulating cholesterol and lipid levels with respect to cardiometabolic diseases in pigs is unclear. We aimed to identify and analyze LDLR as a potential target gene of SSC-miR-20a. Read More

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http://dx.doi.org/10.5713/ajas.18.0510DOI Listing
January 2019
2 Reads
0.541 Impact Factor

CONSENSUS STATEMENT BY THE AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY ON THE COMPREHENSIVE TYPE 2 DIABETES MANAGEMENT ALGORITHM - 2019 EXECUTIVE SUMMARY.

Endocr Pract 2019 Jan;25(1):69-100

Abbreviations: A1C = hemoglobin A1C; AACE = American Association of Clinical Endocrinologists; ACCORD = Action to Control Cardiovascular Risk in Diabetes; ACCORD BP = Action to Control Cardiovascular Risk in Diabetes Blood Pressure; ACE = American College of Endocrinology; ACEI = angiotensin-converting enzyme inhibitor; AGI = alpha-glucosidase inhibitor; apo B = apolipoprotein B; ARB = angiotensin II receptor blocker; ASCVD = atherosclerotic cardiovascular disease; BAS = bile acid sequestrant; BMI = body mass index; BP = blood pressure; CCB = calcium channel blocker; CGM = continuous glucose monitoring; CHD = coronary heart disease; CKD = chronic kidney disease; DKA = diabetic ketoacidosis; DPP4 = dipeptidyl peptidase 4; eGFR = estimated glomerular filtration rate; EPA = eicosapentaenoic acid; ER = extended release; FDA = Food and Drug Administration; GLP1 = glucagon-like peptide 1; HDL-C = high-density-lipoprotein cholesterol; HeFH = heterozygous familial hypercholesterolemia; LDL-C = low-density-lipoprotein cholesterol; LDL-P = low-density-lipoprotein particle; Look AHEAD = Look Action for Health in Diabetes; NPH = neutral protamine Hagedorn; OSA = obstructive sleep apnea; PCSK9 = proprotein convertase subtilisin-kexin type 9 serine protease; RCT = randomized controlled trial; SU = sulfonylurea; SGLT2 = sodium-glucose cotransporter 2; SMBG = self-monitoring of blood glucose; T2D = type 2 diabetes; TZD = thiazolidinedione. Read More

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http://dx.doi.org/10.4158/CS-2018-0535DOI Listing
January 2019
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Prevalence of familial hypercholesterolemia in patients with acute coronary syndromes.

Kardiol Pol 2019 Feb 11. Epub 2019 Feb 11.

Institute of Cardiology, Jagiellonian University Medical College, Krakow, Poland.

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http://dx.doi.org/10.5603/KP.a2019.0029DOI Listing
February 2019
1 Read

PCSK9 inhibitors: A new improvement for health.

Clin Investig Arterioscler 2019 Feb 5. Epub 2019 Feb 5.

Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario de Valencia, Valencia, España. Electronic address:

It is a patient with heterozygous familial hypercholesterolemia and a personal history of acute myocardial infarction, which is referred to our lipid unit for hypocholesterolemic treatment adjustment. Since he does not reach therapeutic goals with oral medication, he starts a treatment with fortnightly sessions of LDL-apheresis, which he keeps for 8 years. With the introduction and availability of PCSK9 inhibitors, a new treatment option is possible for this patient. Read More

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http://dx.doi.org/10.1016/j.arteri.2018.11.001DOI Listing
February 2019

Impact of Age on the Efficacy and Safety of Alirocumab in Patients with Heterozygous Familial Hypercholesterolemia.

Cardiovasc Drugs Ther 2019 Feb 8. Epub 2019 Feb 8.

Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Purpose: This post-hoc analysis examined whether age modified the efficacy and safety of alirocumab, a PCSK9 inhibitor, in patients with heterozygous familial hypercholesterolemia (HeFH), using pooled data from four 78-week placebo-controlled phase 3 trials (ODYSSEY FH I, FH II, LONG TERM, and HIGH FH).

Methods: Data from 1257 patients with HeFH on maximally tolerated statin ± other lipid-lowering therapies were analyzed by an alirocumab dose regimen and by age subgroups (18 to < 45, 45 to < 55, 55 to < 65, and ≥ 65 years). In the FH I and II trials, patients received 75 mg subcutaneously every 2 weeks (Q2W), with dose increase to 150 mg Q2W at week 12 if week 8 low-density lipoprotein cholesterol (LDL-C) was ≥ 70 mg/dl. Read More

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http://dx.doi.org/10.1007/s10557-019-06852-6DOI Listing
February 2019

Adults with familial hypercholesterolaemia have healthier dietary and lifestyle habits compared with their non-affected relatives: the SAFEHEART study.

Public Health Nutr 2019 Feb 8:1-11. Epub 2019 Feb 8.

1Fundación Hipercolesterolemia Familiar,C/General Álvarez de Castro 14,28010Madrid,Spain.

Objective: Healthy lifestyle habits are the cornerstone in the management of familial hypercholesterolaemia (FH). Nevertheless, dietary studies on FH-affected populations are scarce. The present study analyses dietary habits, adherence to a Mediterranean diet pattern and physical activity in an adult population with FH and compares them with their non-affected relatives. Read More

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http://dx.doi.org/10.1017/S1368980018003853DOI Listing
February 2019
2 Reads

Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene.

Atherosclerosis 2019 Jan 29;282:143-147. Epub 2019 Jan 29.

Lipid Unit, Hospital Universitario Miguel Servet, IIS Aragon, CIBERCV, Universidad de Zaragoza, Zaragoza, Spain.

Background And Aims: The aim of this work was to compared the effect of lipid lowering drugs among familial hypercholesterolemia (FH) subjects with a functional mutation in LDLR (LDLR FH) and FH with the p.(Leu167del) mutation in APOE.

Methods: We retrospectively selected all adults with the p. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.01.024DOI Listing
January 2019
1 Read

Visfatin, PON-1 Levels in Iraqi Hyperthyroidism Patient's with Dyslipidemia.

Indian J Clin Biochem 2019 Jan 14;34(1):101-107. Epub 2017 Nov 14.

Chemistry Department, College of Education for Pure Science/Ibn Al-Haitham, University of Baghdad, P.O. Box 4150, AI-Adhamiyah/Anter Square/Baghdad, Iraq.

In the study, it is aimed to research the likely role of visfatin in hyperthyroid and subclinical hyperthyroid status related to dislipidemia, after determining the visfatin and PON-1 levels thirty healthy individuals were enrolled in this study as control group and thirty hyperthyroidism patient's with dyslipidemia they were treated with. The subjects aged ranged (30-50) years and with BMI (25-29) kg/m. Serum was used in determination of lipid profile total cholesterol (TC), triglyceride (TG), high density lipoprotein (HDL), low density lipoprotein (LDL), very low density lipoprotein (VLDL), thyroid threonine (T3) and thyroxin (T4), thyroid stimulating hormone (TSH), visfatin and paraoxonase-1 (PON-1). Read More

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http://dx.doi.org/10.1007/s12291-017-0717-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346613PMC
January 2019
1 Read

Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery.

Chronic Obstr Pulm Dis 2018 Sep 15;5(4):258-266. Epub 2018 Sep 15.

Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, Massachusetts.

PIZZ alpha-1 antitrypsin deficiency (AATD) is an autosomal recessive disease affecting approximately 100,000 individuals in the United States and one of the most common hereditary causes of liver disease. The most common form of the disease results from a single base pair mutation (Glu342Lys), known as the "Z" mutation, that encodes a mutant protein (Z alpha-1 antritypsin [AAT]) that is prone to misfolding and is retained in the endoplasmic reticulum (ER) rather than appropriately secreted. Some of the retained mutant protein attains an unusual aggregated or conformation. Read More

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https://journal.copdfoundation.org/jcopdf/id/1204/Patient-De
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http://dx.doi.org/10.15326/jcopdf.5.4.2017.0179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361479PMC
September 2018
6 Reads

Plant-Based Diet, Cholesterol, and Risk of Gallstone Disease: A Prospective Study.

Nutrients 2019 Feb 4;11(2). Epub 2019 Feb 4.

Department of Cardiology, Dalin Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Chiayi 622, Taiwan.

Vegetarian diets may lower symptomatic gallstone disease via cholesterol lowering. This study aimed to examine the risk of symptomatic gallstone disease (GSD) in Taiwanese vegetarians vs. nonvegetarians in a prospective cohort and to explore if this association is related to cholesterol concentration. Read More

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http://www.mdpi.com/2072-6643/11/2/335
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http://dx.doi.org/10.3390/nu11020335DOI Listing
February 2019
2 Reads

Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States.

J Pers Med 2019 Feb 1;9(1). Epub 2019 Feb 1.

Precision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Landmark Center, 401 Park Drive Suite 401, Boston, MA 02215, USA.

Cardiovascular disease (CVD) is the leading cause of death in the United States (US), with familial hypercholesterolemia (FH) being a major inherited and genetic risk factor for premature CVD and atherosclerosis. Genetic testing has helped patients and providers confirm the presence of known pathogenic and likely pathogenic variations in FH-associated genes. Key organizations, such as the Centers for Disease Control and Prevention (CDC), American Heart Association (AHA), FH Foundation, and National Lipid Association (NLA), have recognized the clinical utility of FH genetic testing. Read More

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http://dx.doi.org/10.3390/jpm9010009DOI Listing
February 2019
1 Read

Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio.

Clin Chem Lab Med 2019 Feb 2. Epub 2019 Feb 2.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.

Background Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in genes involved in low-density lipoprotein (LDL) uptake (LDLR, APOB and PCSK9). Genetic diagnosis is particularly useful in asymptomatic children allowing for the detection of definite FH patients. Furthermore, defining their genetic status may be of considerable importance as the compound heterozygous status is much more severe than the heterozygous one. Read More

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http://dx.doi.org/10.1515/cclm-2018-1037DOI Listing
February 2019
1 Read

Consensus statement of professional associations on prescribing of PCSK9-inhibitors.

Vnitr Lek 2019 ;64(12):1131-1136

A new class of drugs known as PCSK9 inhibitors (PCSK9i) provide biological treatment for hypercholesterolemia. These drugs are administered using a subcutaneous injection once in two or four weeks. PCSK9i are not a replacement of the existing hypolipidemics, they just expand the therapeutic spectrum for the critically ill and those who cannot use the standard therapy and do not reach satisfactory target values. Read More

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January 2019
6 Reads

Cholesterol-Lowering Agents.

Circ Res 2019 Feb;124(3):354-363

From the Department of Primary Care and Public Health, Imperial College, London, United Kingdom.

Cardiovascular disease (CVD) remains the leading cause of death worldwide. To date, decades of research has established LDL-C (low-density lipoprotein cholesterol) as a causal factor in the development of atherosclerotic CVD. Statin therapy, supported by a broad evidence base, has demonstrated its superior efficacy in reducing LDL-C and subsequent cardiovascular risk. Read More

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http://dx.doi.org/10.1161/CIRCRESAHA.118.313245DOI Listing
February 2019
1 Read

Serum Omega-6 Fatty Acids and Immunology-Related Gene Expression in Peripheral Blood Mononuclear Cells: A Cross-Sectional Analysis in Healthy Children.

Mol Nutr Food Res 2019 Jan 31:e1800990. Epub 2019 Jan 31.

Department of Nutrition, University of Oslo, P.O. Box 1046 Blindern, 0317, Oslo, Norway.

Scope: Some studies suggest that a high dietary intake of omega-6 fatty acids is pro-inflammatory. However, whether omega-6 fatty acids actually cause pathogenic inflammation in humans is debated. Therefore, the associations between expression of immunology-related genes in peripheral blood mononuclear cells (PBMCs) and serum total omega-6 PUFA status are investigated. Read More

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http://dx.doi.org/10.1002/mnfr.201800990DOI Listing
January 2019

Screening of familial hypercholesterolemia among patients in age under 40 years old exposed by duplex scanning of carotid arteries, by the local registry data.

Ter Arkh 2018 Sep;90(9):37-41

Federal State Budgtary Institution "United Hospital with a Polyclinic" of the Department of Presidential Affairs of the Russian Federation, Moscow, Russia.

Aim: To identify patients with probable FH among Duplex-2013 registry patients under the age of 40 years, to analyze their lipid spectrum and duplex carotid artery data, to evaluate the changes of their lipid spectrum parameters.

Materials And Methods: The Duplex-2013 registry database was used for this study (n=2550). Patients under the age of 40 years were selected for follow-up analysis (n=192). Read More

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http://dx.doi.org/10.26442/terarkh201890937-41DOI Listing
September 2018

Helper-dependent adenovirus-mediated gene transfer of a secreted LDL receptor/transferrin chimeric protein reduces aortic atherosclerosis in LDL receptor-deficient mice.

Gene Ther 2019 Jan 30. Epub 2019 Jan 30.

CEINGE-Biotecnologie Avanzate, Napoli, Italy.

Familial hypercholesterolemia (FH) is a genetic hyperlipidemia characterized by elevated concentrations of plasma LDL cholesterol. Statins are not always effective for the treatment of FH patients; unresponsive patients have poor prognosis and rely on LDL apheresis. In the past, we developed safe and effective gene therapy strategies for the expression of anti-atherogenic proteins using PEGylated helper-dependent adenoviral (HD-Ad) vectors. Read More

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http://www.nature.com/articles/s41434-019-0061-z
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http://dx.doi.org/10.1038/s41434-019-0061-zDOI Listing
January 2019
2 Reads

HIV is associated with endothelial activation despite ART, in a sub-Saharan African setting.

Neurol Neuroimmunol Neuroinflamm 2019 Mar 21;6(2):e531. Epub 2018 Dec 21.

Institute of Infection and Global Health (J.K.-T., Z.A.-B., J.F., M.G., T.S., L.B.), University of Liverpool; Malawi-Liverpool-Wellcome Trust Clinical Research Programme (J.K.-T., H.M.), University of Malawi College of Medicine, Blantyre; Department of Clinical Sciences (H.M.), Liverpool School of Tropical Medicine, United Kingdom.

Objective: To study the relationship between endothelial dysfunction, HIV infection, and stroke in Malawians.

Methods: Using a cross-sectional design, we measured plasma levels of intercellular adhesion molecule-1 (ICAM-1), plasminogen activator inhibitor-1 (PAI-1), vascular endothelial growth factor (VEGF), and soluble thrombomodulin (sTM) in stroke patients and controls, stratified by HIV status. These biomarkers were measured using ELISA. Read More

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http://nn.neurology.org/lookup/doi/10.1212/NXI.0000000000000
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http://dx.doi.org/10.1212/NXI.0000000000000531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340379PMC
March 2019
2 Reads

Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.

Curr Opin Lipidol 2019 Jan 28. Epub 2019 Jan 28.

Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University.

Purpose Of Review: Familial hypercholesterolemia is an inherited disorder where cases have a significantly higher risk of having premature myocardial infarction than noncases. The prevalence of this genetic disease is currently unknown in countries of the Middle East and North Africa region. Given that a high percentage of marriages are consanguineous in this region, the prevalence may be much higher than assumed. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000586DOI Listing
January 2019

Aortic Root Enlargement and Aortic Valve Replacement for Calcified Supravalvular and Valvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: A Case Report.

World J Pediatr Congenit Heart Surg 2019 Jan 27:2150135118783639. Epub 2019 Jan 27.

3 Department of Cardiac Pathology, All India Institute of Medical Sciences, New Delhi, India.

Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations ranging from premature ischemic heart disease to aortic root stenosis but rarely presents with anginal symptoms due to supravalvular and valvular aortic stenosis. We report a 19-year-old male patient with familial homozygous hypercholesterolemia with progressive supravalvular and valvular aortic stenosis that ultimately required aortic root enlargement and aortic valve replacement using a mechanical prosthesis, despite aggressive medical therapy. Surgical importance of this rare condition is highlighted. Read More

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http://dx.doi.org/10.1177/2150135118783639DOI Listing
January 2019
1 Read

Reverse Cascade Screening for Familial Hypercholesterolemia.

J Pediatr Nurs 2019 Jan - Feb;44:50-55. Epub 2018 Oct 24.

Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX, USA.

Problem: Cardiovascular disease (CVD) is the leading cause of death in the U.S. and in most Western countries. Read More

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http://dx.doi.org/10.1016/j.pedn.2018.09.011DOI Listing
October 2018
1 Read

Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.

Medicine (Baltimore) 2019 Jan;98(4):e14247

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.

Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes. Next-generation and exome sequencing studies have primarily involved genome-wide association analyses, and meta-analyses and next-generation studies examined a few single-nucleotide polymorphisms (rs151009667 and Val2095Glu) in the ApoB gene. The present study was conducted to investigate the association of APOB and patients with FH in a Saudi population. Read More

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http://dx.doi.org/10.1097/MD.0000000000014247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358331PMC
January 2019
9 Reads

Spatial patterns of white matter hyperintensities associated with Alzheimer's disease risk factors in a cognitively healthy middle-aged cohort.

Alzheimers Res Ther 2019 Jan 24;11(1):12. Epub 2019 Jan 24.

Barcelonaβeta Brain Research Center, Pasqual Maragall Foundation, Wellington 30, 08005, Barcelona, Spain.

Background: White matter hyperintensities (WMH) of presumed vascular origin have been associated with an increased risk of Alzheimer's disease (AD). This study aims to describe the patterns of WMH associated with dementia risk estimates and individual risk factors in a cohort of middle-aged/late middle-aged individuals (mean 58 (interquartile range 51-64) years old).

Methods: Magnetic resonance imaging and AD risk factors were collected from 575 cognitively unimpaired participants. Read More

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http://dx.doi.org/10.1186/s13195-018-0460-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346579PMC
January 2019
3 Reads

Moving Targets: Recent Advances in Lipid-Lowering Therapies

Arterioscler Thromb Vasc Biol 2019 01 24:ATVBAHA118312028. Epub 2019 Jan 24.

From the Department of Vascular Medicine, Amsterdam University Medical Center, The Netherlands.

Statin therapy has delivered tremendous value to society by improving the burden of atherosclerotic cardiovascular disease. Nonetheless, atherosclerotic cardiovascular disease remains the leading cause of death globally. Technological advances such as in the field of genomics have revolutionized drug discovery and development and have revealed novel therapeutic targets to lower low-density lipoprotein cholesterol (LDL-C), as well as other detrimental lipids and lipoproteins. Read More

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http://dx.doi.org/10.1161/ATVBAHA.118.312028DOI Listing
January 2019
2 Reads

Characterization of coronary atherosclerotic plaques in a homozygous familial hypercholesterolemia visualized by optical coherence tomography.

J Geriatr Cardiol 2018 Dec;15(12):738-743

Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

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http://dx.doi.org/10.11909/j.issn.1671-5411.2018.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330271PMC
December 2018
1.056 Impact Factor

[The gender features of disorders of composition of lipids of blood serum in patients with chronic pathology of kidneys.]

Klin Lab Diagn 2018 ;63(3):152-158

The I.K. Akhunbaiev Kirghiz State Medical Academy, 720020, Bishkek, Kyrgyzstan.

The purpose of the study was to investigate gender features of abnormalities of blood serum lipid composition and their relationship with clinical and functional manifestations in patients with chronic kidney disease (CKD). The study covered patients with CKD at pre-dialysis stage of disease, aged 17 - 71 years (average age 37.3±13. Read More

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http://dx.doi.org/10.18821/0869-2084-2018-63-3-152-158DOI Listing
January 2018
1 Read

Early diagnosis and treatment of familial hypercholesterolemia.

Authors:

Nurse Pract 2019 Feb;44(2):24-25

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http://dx.doi.org/10.1097/01.NPR.0000553411.12035.a3DOI Listing
February 2019
1 Read

Hepatocyte Sortilin 1 knockout and treatment with a Sortilin 1 inhibitor reduced plasma cholesterol in Western diet-fed mice.

J Lipid Res 2019 Jan 22. Epub 2019 Jan 22.

University of Kansas Medical Center, United States

Sortilin 1 (Sort1) is a member of the Vps10p domain intracellular trafficking receptor family. Genetic variations of SORT1 gene is strongly associated with plasma cholesterol levels in humans. Recent studies have linked Sort1 to regulation of cholesterol metabolism in hepatocytes and pro-inflammatory response in macrophages, but tissue-specific roles of Sort1 in lipid metabolism have not been well defined. Read More

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http://dx.doi.org/10.1194/jlr.M089789DOI Listing
January 2019
1 Read

Educational diagnosis of self-management behaviours in patients with diabetes mellitus, hypertension and hypercholesterolaemia based on the PRECEDE model: Qualitative study.

J Clin Nurs 2019 Jan 22. Epub 2019 Jan 22.

Stress and Health Research Group, Faculty of Psychology, Universitat Autònoma de Barcelona, Barcelona, Spain.

Aims And Objectives: To identify the key factors of adopting self-care behaviours in the treatment of diabetes mellitus II, hypertension and hypercholesterolaemia when the three conditions appear simultaneously.

Background: Diabetes, hypertension and hypercholesterolaemia are chronic health problems which often appear together. The correct monitoring of these pathologies when they concur simultaneously requires specific health management behaviours, to which a significant part of the population is unable of adhering, despite recommendations from professional healthcare workers. Read More

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http://doi.wiley.com/10.1111/jocn.14794
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http://dx.doi.org/10.1111/jocn.14794DOI Listing
January 2019
4 Reads

Progress in finding pathogenic DNA copy number variations in dyslipidemia.

Curr Opin Lipidol 2019 Jan 16. Epub 2019 Jan 16.

Robarts Research Institute, and Department of Biochemistry, Schulich School of Medicine and Dentistry.

Purpose Of Review: DNA copy number variations (CNVs) are large-scale mutations that include deletions and duplications larger than 50 bp in size. In the era when single-nucleotide variations were the major focus of genetic technology and research, CNVs were largely overlooked. However, CNVs clearly underlie a substantial proportion of clinical disorders. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000581DOI Listing
January 2019
2 Reads

Therapeutic options for homozygous familial hypercholesterolemia: the role of Lomitapide.

Curr Med Chem 2019 Jan 21. Epub 2019 Jan 21.

Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.Mi.S), Policlinico "Paolo Giaccone", Università di Palermo; Via del Vespro 129, 90127 Palermo . Italy.

Background: Lomitapide (Juxtapid® in US and Lojuxta® in Europe) is the first developed inhibitor of the microsomal triglyceride transfer protein (MTP) approved as a novel drug for the management of homozygous familial hypercholesterolemia (HoFH). It acts by binding directly and selectively to MTP thus decreasing the assembly and secretion of the apo-B containing lipoproteins both in the liver and in the intestine.

Aims: The present review aims at summarizing the recent knowledge on lomitapide in the management of HoFH. Read More

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http://dx.doi.org/10.2174/0929867326666190121120735DOI Listing
January 2019
5 Reads

Relationship between area mortgage foreclosures, homeownership, and cardiovascular disease risk factors: The Hispanic Community Health Study/Study of Latinos.

BMC Public Health 2019 Jan 17;19(1):77. Epub 2019 Jan 17.

Department of Psychology, San Diego State University, San Diego, CA, 92120, USA.

Background: The risk of mortgage foreclosure disproportionately burdens Hispanic/Latino populations perpetuating racial disparities in health. In this study, we examined the relationship between area-level mortgage foreclosure risk, homeownership, and the prevalence of cardiovascular disease risk factors among participants of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).

Methods: HCHS/SOL participants were age 18-74 years when recruited from four U. Read More

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http://dx.doi.org/10.1186/s12889-019-6412-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335763PMC
January 2019
3 Reads

Radiation-primed hepatocyte transplantation in murine monogeneic dyslipidemia normalizes cholesterol and prevents atherosclerosis.

J Hepatol 2019 Jan 14. Epub 2019 Jan 14.

Departments of Pathology, Oregon Health & Science University, Portland, OR, United states; Surgery, Oregon Health & Science University, Portland, OR, United states; Radiation Oncology, Oregon Health & Science University, Portland, OR, United states; Medicine, Oregon Health & Science University, Portland, OR, United states; Marion Bessin Liver Research Center, Oregon Health & Science University, Portland, OR, United states; Urology, Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, NY-10461, United states. Electronic address:

Background & Aims: Binding of the apolipoprotein E (ApoE)-containing lipoprotein complex to the low-density lipoprotein receptor (LDLR) is essential for cholesterol and lipid homeostasis. Inherited abnormalities in ApoE or LDLR function result in early onset cardiovascular disease and death, and lipid-lowering therapeutics, e.g statins or PCSK9 inhibitors are ineffective in the absence of LDLR or ApoE function. Read More

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http://dx.doi.org/10.1016/j.jhep.2019.01.010DOI Listing
January 2019
2 Reads
11.336 Impact Factor

Systematic review of the predictors of statin adherence for the primary prevention of cardiovascular disease.

PLoS One 2019 17;14(1):e0201196. Epub 2019 Jan 17.

Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester. England.

Introduction: Previous research has shown that statin adherence for the primary prevention of CVD is lower compared to secondary prevention populations. Therefore the aim of this systematic review was to review predictors of statin adherence for the primary prevention of CVD.

Methods: A systematic search of papers published between Jan 1984 and May 2017 was conducted in PubMed, PsycINFO, EMbase and CINAHL databases. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201196PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336256PMC
January 2019
18 Reads

Parental hypercholesterolemia and family medical history as predictors of hypercholesterolemia in their children.

Arch Argent Pediatr 2019 02;117(1):41-47

McMaster University, Hamilton, Canadá.

Introduction: Parental hypercholesterolemia would be a better predictor of hypercholesterolemia than family medical history in children.

Objectives: To compare the strength of association and predictive values of parental hypercholesterolemia versus a positive family history in pediatric hypercholesterolemia. Material and methods. Read More

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http://dx.doi.org/10.5546/aap.2019.eng.41DOI Listing
February 2019
5 Reads

Editorial: Familial Hypercholesterolaemia Registry in the MENA Region

Curr Vasc Pharmacol 2019 Jan 16. Epub 2019 Jan 16.

Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Australia

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January 2019
5 Reads

Subclinical coronary atherosclerosis and cardiovascular risk stratification in heterozygous familial hypercholesterolemia patients undergoing statin treatment.

Curr Opin Lipidol 2019 Jan 14. Epub 2019 Jan 14.

Heart Institute (InCor) University of Sao Paulo Medical School Hospital.

Purpose Of Review: To discuss the heterogeneity of atherosclerotic cardiovascular disease (ASCVD) risk in heterozygous familial hypercholesterolemia and evidence and limitations of clinical risk scores and subclinical coronary atherosclerosis (SCA) imaging to evaluate risk.

Recent Findings: Risk evaluation in contemporary familial hypercholesterolemia cohorts needs to consider the cause of the familial hypercholesterolemia phenotype, for example the presence of autosomal molecular defects that impart a greater ASCVD risk than in polygenic hypercholesterolemia, prospective follow-up and the impact of statin treatment. As atherosclerosis is multifactorial, clinical scores like the Montreal familial hypercholesterolemia score and SAFEHEART risk equation have been proposed to stratify ASCVD in statin-treated, molecularly defined familial hypercholesterolemia individuals. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000573DOI Listing
January 2019
7 Reads