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primary hypercholesterolemia

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https://www.readbyqxmd.com/read/28529918/advances-in-dyslipidemia-management-for-prevention-of-atherosclerosis-pcsk9-monoclonal-antibody-therapy-and-beyond
#1
REVIEW
Nathan D Wong, Paul D Rosenblit, Robert S Greenfield
In 2003, select families with familial hypercholesterolemia were first identified to have gain-of-function mutations for proprotein convertase subtilisin kexin type 9 (PCSK9) followed, in 2006, by the identification of those with lifelong low levels of LDL-C and lowered atherosclerotic cardiovascular disease (ASCVD) risk who had loss-of-function PCSK9 mutations. These discoveries led to the rapid development of PSCK9-targeted monoclonal antibody (PCSK9 mAb) therapies and, in 2015, 2 'fully-humanized' PCSK9 mAbs (alirocumab and evolocumab) were marketed in the United States, Europe, and other countries...
April 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28527325/dyslipidemia-management-update
#2
REVIEW
Yingzi Chang, Jacques Robidoux
Association of hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD) is well established. Reducing low-density lipoprotein-cholesterol (LDL-C) and raising high-density lipoprotein-cholesterol (HDL-C) have been the therapeutic targets to reduce the risk of ASCVD. Cholesterol-lowering medications have been used to provide both primary and secondary prevention of ASCVD for many years by reducing the absorption and reabsorption, promoting excretion, or decreasing the synthesis of cholesterol. Within the past five years, several new classes of cholesterol-lowering drugs have been tested and approved for patients with hypercholesterolemia that are not well controlled by conventional therapy (ezetimibe, bile-acid sequestrants, and statins)...
May 17, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/28523635/2017-position-paper-of-the-italian-society-for-cardiovascular-prevention-siprec-for-an-updated-clinical-management-of-hypercholesterolemia-and-cardiovascular-risk-executive-document
#3
Massimo Volpe, Roberto Volpe, Giovanna Gallo, Vivianne Presta, Giuliano Tocci, Emanuela Folco, Andrea Peracino, Elena Tremoli, Bruno Trimarco
The benefits achieved by implementing cardiovascular prevention strategies in terms of reduced incidence of atherosclerotic diseases and mortality are accepted, worldwide. In particular, the clinical management of hypercholesterolemia has a fundamental role for all preventive strategies, both in primary and secondary prevention, at each stage of cardiovascular risk. Since the net clinical benefit of lipid-lowering therapy largely depends on baseline individual cardiovascular risk profile, the assessment of individual risk is essential to establish type and intensity of both preventive and therapeutic strategies...
May 18, 2017: High Blood Pressure & Cardiovascular Prevention: the Official Journal of the Italian Society of Hypertension
https://www.readbyqxmd.com/read/28521186/timely-diagnosis-of-sitosterolemia-by-next-generation-sequencing-in-two-children-with-severe-hypercholesterolemia
#4
Paola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, Claudio Rabacchi, Francesco Papadia, Patrizia Bruzzi, Albina Tummolo, Andrea Bartuli, Claudio Cortese, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8...
May 4, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28504277/role-of-dietary-onion-in-modifying-the-faecal-bile-acid-content-in-rats-fed-a-high-cholesterol-diet
#5
Diana González-Peña, Lucía Giménez, Begoña de Ancos, Concepción Sánchez-Moreno
The determination of faecal bile patterns offers new opportunities in the search for non-invasive biomarkers of disease status. The objective of this study was to describe the shifts in faecal bile acid (BA) composition induced by feeding a high-cholesterol/cholic acid diet (HC) over 7 weeks of experimental feeding in Wistar rats, and to evaluate the effect of onion included as a functional ingredient (HCO). A HPLC-MS/MS method allowed the detection of 29 bile acids, 10 of which were tentatively identified and 12 confirmed and quantified by means of standards and calibration curves...
May 15, 2017: Food & Function
https://www.readbyqxmd.com/read/28499375/cardiovascular-risk-status-of-afro-origin-populations-across-the-spectrum-of-economic-development-findings-from-the-modeling-the-epidemiologic-transition-study
#6
Lara R Dugas, Terrence E Forrester, Jacob Plange-Rhule, Pascal Bovet, Estelle V Lambert, Ramon A Durazo-Arvizu, Guichan Cao, Richard S Cooper, Rasha Khatib, Laura Tonino, Walter Riesen, Wolfgang Korte, Stephanie Kliethermes, Amy Luke
BACKGROUND: Cardiovascular risk factors are increasing in most developing countries. To date, however, very little standardized data has been collected on the primary risk factors across the spectrum of economic development. Data are particularly sparse from Africa. METHODS: In the Modeling the Epidemiologic Transition Study (METS) we examined population-based samples of men and women, ages 25-45 of African ancestry in metropolitan Chicago, Kingston, Jamaica, rural Ghana, Cape Town, South Africa, and the Seychelles...
May 12, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28453475/modifiable-risk-factors-for-prevention-of%C3%A2-dementia-in-midlife-late-life-and-the-oldest-old-validation-of-the-libra-index
#7
Stephanie J B Vos, Martin P J van Boxtel, Olga J G Schiepers, Kay Deckers, Marjolein de Vugt, Isabelle Carrière, Jean-François Dartigues, Karine Peres, Sylvaine Artero, Karen Ritchie, Lucia Galluzzo, Emanuele Scafato, Giovanni B Frisoni, Martijn Huisman, Hannie C Comijs, Simona F Sacuiu, Ingmar Skoog, Kate Irving, Catherine A O'Donnell, Frans R J Verhey, Pieter Jelle Visser, Sebastian Köhler
BACKGROUND: Recently, the LIfestyle for BRAin health (LIBRA) index was developed to assess an individual's prevention potential for dementia. OBJECTIVE: We investigated the predictive validity of the LIBRA index for incident dementia in midlife, late life, and the oldest-old. METHODS: 9,387 non-demented individuals were recruited from the European population-based DESCRIPA study. An individual's LIBRA index was calculated solely based on modifiable risk factors: depression, diabetes, physical activity, hypertension, obesity, smoking, hypercholesterolemia, coronary heart disease, and mild/moderate alcohol use...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28445539/restless-legs-syndrome-and-cardiovascular-diseases-a-case-control-study
#8
Marion Cholley-Roulleau, Sofiene Chenini, Séverine Béziat, Lily Guiraud, Isabelle Jaussent, Yves Dauvilliers
OBJECTIVE: The association between restless legs syndrome (RLS), cardiovascular diseases (CVD) and hypertension is inconsistent. This case-control study examined i) the association between primary RLS, CVD and hypertension by taking into account many potential confounders and ii) the influence of RLS duration, severity and treatment, sleep and depressive symptoms on CVD and hypertension in primary RLS. METHODS: A standardized questionnaire to assess the RLS phenotype, history of CVD and hypertension, sleep and depressive symptoms, drug intake and demographic/clinical features was sent to the France-Ekbom Patients Association members...
2017: PloS One
https://www.readbyqxmd.com/read/28444187/modelling-the-cost-effectiveness-pcsk9-inhibitors-vs-ezetimibe-through-ldl-c-reductions-in-a-norwegian-setting
#9
Max Korman, Torbjørn Wisløff
Aims: Despite the success of statins, there remains unmet clinical need in cardiovascular disease (CVD) prevention. New proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors reduce low-density lipoprotein cholesterol (LDL-C) by 55-65%. Two PCSK9 inhibitors, evolocumab and alirocumab, were approved for use in Norway but not yet for reimbursement through public national insurance. We aim to explore the cost-effectiveness of these compared to available treatments in a Norwegian setting...
April 21, 2017: European Heart Journal. Cardiovascular Pharmacotherapy
https://www.readbyqxmd.com/read/28437620/american-association-of-clinical-endocrinologists-and-american-college-of-endocrinology-guidelines-for-management-of-dyslipidemia-and-prevention-of-cardiovascular-disease
#10
Paul S Jellinger, Yehuda Handelsman, Paul D Rosenblit, Zachary T Bloomgarden, Vivian A Fonseca, Alan J Garber, George Grunberger, Chris K Guerin, David S H Bell, Jeffrey I Mechanick, Rachel Pessah-Pollack, Kathleen Wyne, Donald Smith, Eliot A Brinton, Sergio Fazio, Michael Davidson
OBJECTIVE: The development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and American College of Endocrinology (ACE) Board of Trustees and adheres with published AACE protocols for the standardized production of clinical practice guidelines (CPGs). METHODS: Recommendations are based on diligent reviews of the clinical evidence with transparent incorporation of subjective factors, according to established AACE/ACE guidelines for guidelines protocols...
April 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28429694/the-rationale-and-design-of-the-national-familial-hypercholesterolemia-registries-in-turkey-a-hit1-and-a-hit2-studies
#11
Meral Kayıkçıoğlu, Lale Tokgözoğlu
OBJECTIVE: Familial hypercholesterolemia (FH) is a genetic disease characterized by extremely high levels of cholesterol, leading to premature atherosclerosis. Although many countries have already addressed the burden of FH by means of national registries, Turkey has no national FH registry or national screening program to detect FH. Creation of a series of FH registries is planned as part of Turkish FH Initiative endorsed by the Turkish Society of Cardiology to meet this need. This article provides detailed information on the rationale and design of the first 2 FH registries (A-HIT1 and A-HIT2)...
April 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28391894/cost-effectiveness-of-a-cascade-screening-program-for-the-early-detection-of-familial-hypercholesterolemia
#12
Pablo Lázaro, Leopoldo Pérez de Isla, Gerald F Watts, Rodrigo Alonso, Richard Norman, Ovidio Muñiz, Francisco Fuentes, Nelva Mata, José López-Miranda, José Ramón González-Juanatey, José Luis Díaz-Díaz, Antonio Javier Blasco, Pedro Mata
BACKGROUND: Although familial hypercholesterolemia (FH) confers a high risk of coronary artery disease, most patients are undiagnosed, and little is known about the efficiency of genetic cascade screening programs at national level. OBJECTIVE: The aim of the study was to estimate the cost-effectiveness of a national genetic cascade screening program in Spain. METHODS: An economic evaluation was performed using a decision tree analysis. The choice in the decision tree was between implementation of the national program for FH (NPFH) or keeping the usual clinical care...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28384790/treatment-of-severe-hypercholesterolemia-in-a-woman-with-advanced-primary-sclerosing-cholangitis
#13
Changting Xiao, Robert A Hegele, Gary F Lewis
No abstract text is available yet for this article.
May 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28379033/screenpro-fh-from-the-czech-medped-to-international-collaboration-screenpro-fh-is-a-participating-project-of-the-eas-fhcs
#14
R Ceska, T Freiberger, M Vaclova, T Aleksicova, L Votavova, M Vrablik
This article describes the evolution of our understanding of familial hypercholesterolemia (FH) in the Central, Eastern, and Southern Europe (CESE) region, and the dissemination of this understanding to other countries. Using the ScreenPro FH project as an example, we would like to illustrate the progression from national objectives, to regional networking and, finally, to international collaboration via the Familial Hypercholesterolemia Studies Collaboration (FHSC) project under the leadership of the European Atherosclerosis Society (EAS)...
April 5, 2017: Physiological Research
https://www.readbyqxmd.com/read/28366593/cost-effectiveness-of-evolocumab-in-patients-with-high-cardiovascular-risk-in-spain
#15
Guillermo Villa, Mickael Lothgren, Lucie Kutikova, Peter Lindgren, Shravanthi R Gandra, Gregg C Fonarow, Francesc Sorio, Lluis Masana, Antoni Bayes-Genis, Ben van Hout
PURPOSE: Our objective was to assess the cost-effectiveness of evolocumab in patients at high risk of cardiovascular (CV) events from the Spanish National Health System perspective. METHODS: A Markov model was used to assess the cost-effectiveness (incremental [∆] cost per ∆ quality-adjusted life-year [QALY]; or cost utility) of evolocumab plus standard of care (SoC; statins) versus SoC, assuming lifetime treatment. Cohorts with baseline LDL-C >100 mg/dL and familial hypercholesterolemia (FH) or CV event history (secondary prevention [SP]) were considered...
March 30, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/28353061/dose-intensity-and-efficacy-of-the-combination-of-everolimus-and-exemestane-eve-exe-in-a-real-world-population-of-hormone-receptor-positive-er-pgr-her2-negative-advanced-breast-cancer-abc-patients-a-multicenter-italian-experience
#16
Mariangela Ciccarese, Alessandra Fabi, Luca Moscetti, Maria Elena Cazzaniga, Luciana Petrucelli, Rosachiara Forcignanò, Laura Isabella Lupo, Elisabetta De Matteis, Vincenzo Emanuele Chiuri, Giuseppe Cairo, Antonio Febbraro, Guido Giordano, Marianna Giampaglia, Domenico Bilancia, Nicla La Verde, Evaristo Maiello, Maria Morritti, Francesco Giotta, Vito Lorusso, Agnese Latorre, Claudio Scavelli, Sante Romito, Antonio Cusmai, Gennaro Palmiotti, Giammarco Surico
AIM: This retrospective analysis focused on the effect of treatment with EVE/EXE in a real-world population outside of clinical trials. We examined the efficacy of this combination in terms of PFS and RR related to dose intensity (5 mg daily versus 10 mg daily) and tolerability. METHODS: 163 HER2-negative ER+/PgR+ ABC patients, treated with EVE/EXE from May 2011 to March 2016, were included in the analysis. The primary endpoints were the correlation between the daily dose and RR and PFS, as well as an evaluation of the tolerability of the combination...
March 28, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28334974/efficacy-and-safety-of-sequential-use-of-everolimus-in-japanese-patients-with-advanced-renal-cell-carcinoma-after-failure-of-first-line-treatment-with-vascular-endothelial-growth-factor-receptor-tyrosine-kinase-inhibitor-a-multicenter-phase-ii-clinical-trial
#17
Masafumi Oyama, Takayuki Sugiyama, Masahiro Nozawa, Kiyohide Fujimoto, Takeshi Kishida, Go Kimura, Noriaki Tokuda, Shiro Hinotsu, Kojiro Shimozuma, Hideyuki Akaza, Seiichiro Ozono
Objective: Many studies have shown the efficacy of everolimus after pretreatment with vascular endothelial growth factor receptor-tyrosine kinase inhibitors. We investigated the efficacy and safety of everolimus as a second-line treatment after the failure of vascular endothelial growth factor receptor-tyrosine kinase inhibitor therapy in Japanese patients with advanced renal cell carcinoma. Methods: This was an open-label, multicenter, phase II trial conducted in Japan through the central registration system...
March 1, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28260452/unusual-indications-for-a-liver-transplant-a-single-center-experience
#18
Aydincan Akdur, Mahir Kirnap, Ebru H Ayvazoglu Soy, Figen Ozcay, Gokhan Moray, Gulnaz Arslan, Mehmet Haberal
OBJECTIVES: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. MATERIALS AND METHODS: The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. RESULTS: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28257449/effects-of-selective-serotonin-reuptake-inhibitors-on-glaucoma-a-nationwide-population-based-study
#19
Vincent Chin-Hung Chen, Mei-Hing Ng, Wei-Che Chiu, Roger S McIntyre, Yena Lee, Tsang-Yaw Lin, Jun-Cheng Weng, Pau-Chung Chen, Chung-Yao Hsu
BACKGROUND: Selective serotonin reuptake inhibitors (SSRIs) are one of the most commonly prescribed classes of antidepressants. Glaucoma is the second leading cause of blindness globally and iatrogenic glaucoma has been implicated across disparate medication classes. Available studies that have sought to determine the association between SSRI exposure and glaucoma have provided mixed results. The aim of the study herein was to investigate whether an association exists between SSRI exposure and glaucoma incidence...
2017: PloS One
https://www.readbyqxmd.com/read/28213520/cholesterol-up-regulates-neuronal-g-protein-gated-inwardly-rectifying-potassium-girk-channel-activity-in-the-hippocampus
#20
Anna N Bukiya, Serdar Durdagi, Sergei Noskov, Avia Rosenhouse-Dantsker
Hypercholesterolemia is a well known risk factor for the development of neurodegenerative disease. However, the underlying mechanisms are mostly unknown. In recent years, it has become increasingly evident that cholesterol-driven effects on physiology and pathophysiology derive from its ability to alter the function of a variety of membrane proteins including ion channels. Yet, the effect of cholesterol on G protein-gated inwardly rectifying potassium (GIRK) channels expressed in the brain is unknown. GIRK channels mediate the actions of inhibitory brain neurotransmitters...
April 14, 2017: Journal of Biological Chemistry
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