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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/29168983/reverse-cascade-screening-for-familial-hypercholesterolemia-in-high-risk-chinese-families
#1
Xue Wu, Jing Pang, Xumin Wang, Jie Peng, Yan Chen, Shilong Wang, Gerald F Watts, Jie Lin
BACKGROUND: Reverse cascade screening is not commonly employed to detect new cases of familial hypercholesterolemia (FH). We aimed to assess the outcome of this screening strategy in families in which the probands were children with severe FH. HYPOTHESIS: Reverse cascade screening is an effective method to detect new patients with FH. METHODS: Reverse cascade screening was undertaken starting from 47 index children with severe hypercholesterolemia; 39 were homozygous/compound heterozygous FH and 8 were heterozygous FH...
November 23, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/29162046/association-of-common-genetic-variants-related-to-atrial-fibrillation-and-the-risk-of-ventricular-fibrillation-in-the-setting-of-first-st-elevation-myocardial-infarction
#2
Reza Jabbari, Javad Jabbari, Charlotte Glinge, Bjarke Risgaard, Stefan Sattler, Bo Gregers Winkel, Christian Juhl Terkelsen, Hans-Henrik Tilsted, Lisette Okkels Jensen, Mikkel Hougaard, Stig Haunsø, Thomas Engstrøm, Christine M Albert, Jacob Tfelt-Hansen
BACKGROUND: Cohort studies have revealed an increased risk for ventricular fibrillation (VF) and sudden cardiac death (SCD) in patients with atrial fibrillation (AF). In this study, we hypothesized that single nucleotide polymorphisms (SNP) previously associated with AF may be associated with the risk of VF caused by first ST-segment elevation myocardial infarction (STEMI). METHODS: We investigated association of 24 AF-associated SNPs with VF in the prospectively assembled case-control study among first STEMI-patients of Danish ancestry...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29153781/genetic-epidemiology-of-autosomal-recessive-hypercholesterolemia-in-sicily-identification-by-next-generation-sequencing-of-a-new-kindred
#3
Rossella Spina, Davide Noto, Carlo M Barbagallo, Roberto Monastero, Valeria Ingrassia, Vincenza Valenti, Roberta Baschi, Antonina Pipitone, Antonina Giammanco, Maria P La Spada, Gabriella Misiano, Chiara Scrimali, Angelo B Cefalù, Maurizio R Averna
BACKGROUND: Autosomal recessive hypercholesterolemia (ARH) is a rare inherited lipid disorder. In Sardinia, differently from other world regions, the mutated allele frequency is high. It is caused by mutations in the low-density lipoprotein receptor adaptor protein 1 gene. Fourteen different mutations have been reported so far; in Sardinia, 2 alleles (ARH1 and ARH2) explain most of the cases. Four ARH patients, all carriers of the ARH1 mutation, have been identified in mainland Italy and 2 in Sicily...
October 27, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29151496/cost-effectiveness-analysis-of-cardiovascular-disease-treatment-in-japan
#4
Satoshi Kodera, Arihiro Kiyosue, Jiro Ando, Hiroshi Akazawa, Hiroyuki Morita, Masafumi Watanabe, Issei Komuro
The quality-adjusted life year (QALY) and incremental cost-effectiveness ratio (ICER) are important concepts in cost-effectiveness analysis, which is becoming increasingly important in Japan. QALY is used to estimate quality of life (QOL) and life years, and can be used to compare the efficacies of cancer and cardiovascular treatments. ICER is defined as the difference in cost between treatments divided by the difference in their effects, with a smaller ICER indicating better cost-effectiveness. Here, we present a review of cost-effectiveness analyses in Japan as well other countries...
November 17, 2017: International Heart Journal
https://www.readbyqxmd.com/read/29144438/bioactive-components-in-moringa-oleifera-leaves-protect-against-chronic-disease
#5
REVIEW
Marcela Vergara-Jimenez, Manal Mused Almatrafi, Maria Luz Fernandez
Moringa Oleifera (MO), a plant from the family Moringacea is a major crop in Asia and Africa. MO has been studied for its health properties, attributed to the numerous bioactive components, including vitamins, phenolic acids, flavonoids, isothiocyanates, tannins and saponins, which are present in significant amounts in various components of the plant. Moringa Oleifera leaves are the most widely studied and they have shown to be beneficial in several chronic conditions, including hypercholesterolemia, high blood pressure, diabetes, insulin resistance, non-alcoholic liver disease, cancer and overall inflammation...
November 16, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/29142395/biological-effect-of-cynara-cardunculus-on-kidney-status-of-hypercholesterolemic-rats
#6
Abdullah Glil Alkushi
Context: Cynara cardunculus or artichoke thistle belongs to the sunflower family and has a variety of cultivable forms. Historically, it was cultivated as a vegetable, but more recently, it is being used in cheese and biofuel preparation. Artichoke leaf extracts are also known for its medicinal purposes, particularly in reducing the elevated cholesterol levels in blood. Hypercholesterolemia (HC) is also associated with other complications such as impaired renal function and diabetes mellitus...
October 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/29130076/crispr-correction-of-a-homozygous-low-density-lipoprotein-receptor-mutation-in-familial-hypercholesterolemia-induced-pluripotent-stem-cells
#7
Linda Omer, Elizabeth A Hudson, Shirong Zheng, James B Hoying, Yuan Shan, Nolan L Boyd
Familial hypercholesterolemia (FH) is a hereditary disease primarily due to mutations in the low-density lipoprotein receptor (LDLR) that lead to elevated cholesterol and premature development of cardiovascular disease. Homozygous FH patients (HoFH) with two dysfunctional LDLR alleles are not as successfully treated with standard hypercholesterol therapies, and more aggressive therapeutic approaches to control cholesterol levels must be considered. Liver transplant can resolve HoFH, and hepatocyte transplantation has shown promising results in animals and humans...
November 2017: Hepatol Commun
https://www.readbyqxmd.com/read/29129821/association-between-lipoprotein-a-and-proprotein-convertase-substilisin-kexin-type-9-in-patients-with-heterozygous-familial-hypercholesterolemia-a-case-control-study
#8
Di Sun, Sha Li, Xi Zhao, Na-Qiong Wu, Cheng-Gang Zhu, Yuan-Lin Guo, Ying Gao, Ping Qing, Chuan-Jue Cui, Geng Liu, Jing Sun, Qian Dong, Jian-Jun Li
BACKGROUND: Recent data have suggested an important role of lipoprotein (a) [Lp(a)] and proprotein convertase substilisin/kexin type 9 (PCSK9) in the development of atherosclerotic cardiovascular disease (ASCVD) in both general population and family hypercholesterolemia (FH), while the relation of Lp(a) to PCSK9 has not been examined. OBJECTIVE: The aim of the present study was to investigate the association between plasma PCSK9 and Lp(a)in patients with heterozygous FH (HeFH)...
November 9, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29127338/identification-and-in-vitro-characterization-of-two-new-pcsk9-gain-of-function-variants-found-in-patients-with-familial-hypercholesterolemia
#9
Maria Donata Di Taranto, Asier Benito-Vicente, Carola Giacobbe, Kepa Belloso Uribe, Paolo Rubba, Aitor Etxebarria, Ornella Guardamagna, Marco Gentile, Cesar Martín, Giuliana Fortunato
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among PCSK9 variants, only Gain-of- Function (GOF) variants lead to FH. Greater attention should be paid to the classification of variants as pathogenic. Two hundred sixty nine patients with a clinical suspect of FH were screened for variants in LDLR and the patients without pathogenic variants were screened for variants in PCSK9 and APOB...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29122890/microrna-30c-reduces-plasma-cholesterol-in-homozygous-familial-hypercholesterolemic-and-type-2-diabetic-mouse-models
#10
Sara Irani, Jahangir Iqbal, W James Antoni, Laraib Ijaz, M Mahmood Hussain
High plasma cholesterol levels are found in several metabolic disorders and their reductions are advocated to reduce risk of atherosclerosis. A way to lower plasma lipids is to curtail lipoprotein production; however, this is associated with steatosis. We previously showed that microRNA-30c (miR-30c) lowers diet-induced hypercholesterolemia and atherosclerosis in C57BL/6J and Apoe-/- mice. Here, we tested miR-30c effect on plasma lipids, transaminases and hepatic lipids in different mouse models. Hepatic delivery of miR-30c to chow fed leptin deficient (ob/ob) and leptin receptor deficient (db/db) hypercholesterolemic and hyperglycemic mice reduced cholesterol in total plasma and VLDL/LDL by ~28% and ~25%, respectively, without affecting triglyceride and glucose levels...
November 9, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/29122809/eligibility-for-pcsk9-inhibitors-according-to-american-college-of-cardiology-acc-and-european-society-of-cardiology-european-atherosclerosis-society-esc-eas-guidelines-after-acute-coronary-syndromes
#11
Baris Gencer, Konstantinos C Koskinas, Lorenz Räber, Alexios Karagiannis, David Nanchen, Reto Auer, David Carballo, Sebastian Carballo, Roland Klingenberg, Dik Heg, Christian M Matter, Thomas F Lüscher, Nicolas Rodondi, François Mach, Stephan Windecker
BACKGROUND: The American College of Cardiology (ACC) and European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) have recently published recommendations for the use of proprotein convertase subtilisin/kexin-9 (PCSK9) inhibitors in situations of very high risk. We aim to assess in the real world the suitability of PCSK9 inhibitors for acute coronary syndromes. METHODS AND RESULTS: We analyzed a prospective Swiss cohort of 2023 patients hospitalized for acute coronary syndromes between 2009 and 2014 with available data for low-density lipoprotein cholesterol and lipid-lowering therapy at 1 year...
November 9, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29114919/circulating-progenitor-cells-in-patients-with-familial-hypercholesterolemia
#12
P B Sandesara, V Ramjee, N Ghasemzadeh, Y Guo, N Bhatia, Q Li, L Vaughn, C Nell-Dybdahl, E K Waller, E A Mahar, K Brigham, P W F Wilson, A Quyyumi, N-A Le, L S Sperling
OBJECTIVE: Familial hypercholesterolemia (FH) is a genetic disease with very high levels of circulating low density lipoprotein cholesterol (LDL-C) levels that leads to accelerated atherosclerosis. Lipoprotein apheresis is an effective treatment option for patients with FH and results in reduced cardiovascular morbidity and mortality. Circulating progenitor cells (CPCs) are markers of overall vascular health and diminished levels have been associated with decreased reparative potential and worse outcomes...
November 8, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29102496/plasma-inducible-degrader-of-the-ldlr-soluble-low-density-lipoprotein-receptor-and-proprotein-convertase-subtilisin-kexin-type-9-levels-as-potential-biomarkers-of-familial-hypercholesterolemia-in-children
#13
Josefa Girona, Cèlia Rodríguez-Borjabad, Daiana Ibarretxe, Mercedes Heras, Nuria Amigo, Albert Feliu, Luis Masana, Nuria Plana
BACKGROUND: Familial hypercholesterolemia (FH) in children is under-detected. Plasma biomarkers associated with low-density lipoprotein receptor (LDLR) function could help identifying FH children. OBJECTIVES: We aim to assess the clinical value of inducible degrader of the LDLR (IDOL), soluble LDLR (sLDLR), and proprotein convertase subtilisin/kexin type 9 (PCSK9) plasma concentrations in children with FH compared with control children (CCh). METHODS: This was a cross-sectional study performed in a Lipid Unit from a University hospital...
October 12, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29101577/tendon-pathology-in-hypercholesterolemia-and-familial-hypercholesterolemia
#14
REVIEW
Brittany Taylor, Adnan Cheema, Louis Soslowsky
PURPOSE OF REVIEW: Hypercholesterolemia (HC), or high cholesterol, is usually caused by diet, other health conditions, or inherited diseases, such as familial hypercholesterolemia (FHC). Studies have shown patients with hypercholesterolemia are more prone to tendon injury and impaired healing. Nonetheless, the mechanism by which high cholesterol alters the biochemical and biomechanical properties of tendon and the healing environment is not well defined. This review highlights scientific findings on the relationship between hypercholesterolemia and treatments and tendon pathology at the cellular and tissue level...
November 4, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/29100060/network-analysis-reveals-a-causal-role-of-mitochondrial-gene-activity-in-atherosclerotic-lesion-formation
#15
Baiba Vilne, Josefin Skogsberg, Hassan Foroughi Asl, Husain Ahammad Talukdar, Thorsten Kessler, Johan L M Björkegren, Heribert Schunkert
BACKGROUND AND AIMS: Mitochondrial damage and augmented production of reactive oxygen species (ROS) may represent an intermediate step by which hypercholesterolemia exacerbates atherosclerotic lesion formation. METHODS: To test this hypothesis, in mice with severe but genetically reversible hypercholesterolemia (i.e. the so called Reversa mouse model), we performed time-resolved analyses of mitochondrial transcriptome in the aortic arch employing a systems-level network approach...
October 21, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29096867/the-efficacy-of-anti-pcsk9-antibodies-results-from-recent-trials
#16
Ioanna Gouni-Berthold
The serine protease proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low-density lipoprotein (LDL) receptor (LDLR) and directs it to the lysosome for degradation. This results in decreased numbers of LDLR available on the cell surface to bind LDL particles and remove them from the circulation and a subsequent increase in circulating LDL-cholesterol (LDL-C) concentrations. Since the role PCSK9 plays in LDL-C metabolism has been discovered in 2003, there have been major efforts in finding efficient and safe methods to inhibit it...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29096865/cascade-screening-for-familial-hypercholesterolemia-practical-consequences
#17
Leonora Louter, Joep Defesche, Jeanine Roeters van Lennep
Familial Hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the LDLR gene, resulting in elevated serum cholesterol levels and elevated risk of premature cardiovascular disease (CVD). Timely treatment with lipid lowering medication can lower the risk of CVD to the same level of the normal population. Currently the incidence of FH is estimated at 1 in 240 persons in the Caucasian population. A diagnosis of FH can be made on the basis of clinical criteria (including LDL cholesterol and family history) or DNA testing...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29096864/care-high-cascade-screening-and-registry-for-high-cholesterol-in-germany
#18
Nina Schmidt, Tanja Grammer, Ioanna Gouni-Berthold, Ulrich Julius, Ursula Kassner, Gerald Klose, Christel König, Ulrich Laufs, Britta Otte, Elisabeth Steinhagen-Thiessen, Christoph Wanner, Winfried März
INTRODUCTION: Familial hypercholesterolemia (FH) is an inherited disorder of the LDL metabolism, leading to cardiovascular disease, even at young age. This risk can be significantly lowered by early diagnosis and treatment. About 270,000 patients affected in Germany are not diagnosed correctly and only a small number is treated properly. To improve FH diagnosis in the general population a cascade screening and registry data is warranted, yet missing in Germany. This project aims to fill this gap...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29096862/analysis-of-lipid-metabolism-and-its-impact-on-the-risk-of-ischemic-heart-disease-in-patients-with-definite-familial-hypercholesterolemia
#19
Viktoria Korneva, Tatiana Kuznetsova, Ulrich Julius
AIM: to analyze the relationship between lipid disturbance, including lipoprotein(a) (Lp(a)) levels, and development of ischemic heart disease (IHD) in patients with familial hypercholesterolemia (FH). MATERIALS AND METHODS: 81 patients (middle age was 39.1 ± 0.4 years, 33 males, 48 females) with a definite FH were examined. The concentration of Lp(a) was determined by immunoturbidimetric method. Lipid profiles were estimated by enzymatic colorimetric method...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29096860/current-insights-into-the-german-lipoprotein-apheresis-standard-pcsk9-inhibitors-lipoprotein-apheresis-or-both
#20
V J J Schettler, J Ringel, S Jacob, U Julius, R Klingel, F Heigl, E Roeseler, P Grützmacher
According to current European guidelines, lipid lowering therapy for progressive cardiovascular disease including cardiovascular events has to be focused on a target level for LDL-C. In contrast for Lp(a) a threshold has to be defined with respect to the method of measurement. However, due to new lipid lowering drug developments like PCSK9-inhibitors (PCSK-9-I) a therapeutic algorithm for patients with severe hypercholesterolemia or isolated Lipoprotein(a)-hyperlipoproteinemia with progressive cardiovascular disease may be necessary to manage the use of PCSK9-I, lipoprotein apheresis (LA) or both...
November 2017: Atherosclerosis. Supplements
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