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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28342976/translating-the-microrna-signature-of-microvesicles-derived-from-human-coronary-artery-smooth-muscle-cells-in-patients-with-familial-hypercholesterolemia-and-coronary-artery-disease
#1
David de Gonzalo-Calvo, Ana Cenarro, Katia Garlaschelli, Fabio Pellegatta, David Vilades, Laura Nasarre, Sandra Camino-Lopez, Javier Crespo, Francesc Carreras, Rubén Leta, Alberico Luigi Catapano, Giuseppe Danilo Norata, Fernando Civeira, Vicenta Llorente-Cortes
AIMS: To analyze the impact of atherogenic lipoproteins on the miRNA signature of microvesicles derived from human coronary artery smooth muscle cells (CASMC) and to translate these results to familial hypercholesterolemia (FH) and coronary artery disease (CAD) patients. METHODS: Conditioned media was collected after exposure of CASMC to atherogenic lipoproteins. Plasma samples were collected from two independent populations of diagnosed FH patients and matched normocholesterolemic controls (Study population 1, N=50; Study population 2, N=24) and a population of patients with suspected CAD (Study population 3, N=50)...
March 22, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28340211/familial-hypercholesterolemia-xanthelesma-arcus-corneae-tendon-xanthomas
#2
A K Pannu, N Sharma
No abstract text is available yet for this article.
March 11, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28334946/mutations-affecting-the-transmembrane-domain-of-the-ldl-receptor-impact-of-charged-residues-on-the-membrane-insertion
#3
Thea Bismo Strøm, Jon K Laerdahl, Trond P Leren
Familial hypercholesterolemia (FH) is caused by mutations in the low density lipoprotein receptor (LDLR) gene. To study the impact of mutations affecting the hydrophobic transmembrane domain of the LDLR, each of the 22 amino acids of the transmembrane domain was individually mutated to arginine. The more centrally in the transmembrane domain an arginine was located, the lower amounts of the 120 kDa precursor LDLR in the endoplasmic reticulum were observed. This led to lower amounts of the 160 kDa mature LDLR on the cell surface...
February 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28331223/therapeutic-efficacy-and-safety-of-pcsk9-monoclonal-antibodies-on-familial-hypercholesterolemia-and-statin-intolerant-patients-a-meta-analysis-of-15-randomized-controlled-trials
#4
Li Jun Qian, Yao Gao, Yan Mei Zhang, Ming Chu, Jing Yao, Di Xu
Proprotein convertase subtilisin/kexin9 monoclonal antibodies (PCSK9-mAb) have been studied intensively to identify their effect in lowering levels of low density lipoprotein cholesterol (LDL-C). However, the applicable target of PCSK9-mAbs remains inconclusive so far. Therefore, this first meta-analysis was carried out to clarify the therapeutic efficacy and safety of PCSK9-mAbs on the potential patients: familial hypercholesterolemia and statin-intolerant patients. All randomized controlled trials that met the search terms were retrieved in multiple databases...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28328015/pcsk9-inhibitor-access-barriers-issues-and-recommendations-improving-the-access-process-for-patients-clinicians-and-payers
#5
REVIEW
Seth J Baum, Peter P Toth, James A Underberg, Paul Jellinger, Joyce Ross, Katherine Wilemon
The proprotein convertase subtilisin/kexin type 9 inhibitors or monoclonal antibodies likely represent the greatest advance in lipid management in 30 years. In 2015 the US Food and Drug Administration approved both alirocumab and evolocumab for high-risk patients with familial hypercholesterolemia (FH) and clinical atherosclerotic cardiovascular disease requiring additional lowering of low-density lipoprotein cholesterol. Though many lipid specialists, cardiovascular disease prevention experts, endocrinologists, and others prescribed the drugs on label, they found their directives denied 80% to 90% of the time...
March 22, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28321823/cardiovascular-disease-and-resuscitated-septic-shock-lead-to-the-downregulation-of-the-h2s-producing-enzyme-cystathionine-%C3%AE-lyase-in-the-porcine-coronary-artery
#6
Tamara Merz, Tatjana Stenzel, Benedikt Nußbaum, Martin Wepler, Csaba Szabo, Rui Wang, Peter Radermacher, Oscar McCook
BACKGROUND: Downregulation of the hydrogen sulfide (H2S)-producing enzymes cystathionine-γ-lyase (CSE), cystathionine-β-synthase (CBS), and/or 3-mercaptopyruvate sulfurtransferase (3-MST) is associated with chronic cardiovascular pathologies. Nevertheless, equivocal data are available on both the expression and function of these enzymes in coronary arteries (CA). We recently reported that atherosclerotic pigs subjected to sepsis developed impaired cardiac function, which coincided with decreased myocardial CSE expression and increased nitrotyrosine formation...
December 2017: Intensive Care Medicine Experimental
https://www.readbyqxmd.com/read/28319449/non-clinical-study-examining-aav8-tbg-hldlr-vector-associated-toxicity-in-chow-fed-wild-type-and-ldlr-rhesus-macaques
#7
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
Vectors based on adeno-associated virus serotype 8 (AAV8) have been evaluated in several clinical trials of gene therapy for hemophilia B with encouraging results. In preparation for a Phase 1 clinical trial of AAV8 gene therapy for the treatment of homozygous familial hypercholesterolemia (HoFH), the safety of the clinical candidate vector, AAV8.TBG.hLDLR, was evaluated in wild-type rhesus macaques and macaques heterozygous for a nonsense mutation in the low-density lipoprotein receptor (LDLR) gene (LDLR(+/-))...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28319445/nonclinical-pharmacology-toxicology-study-of-aav8-tbg-mldlr-and-aav8-tbg-hldlr-in-a-mouse-model-of-homozygous-familial-hypercholesterolemia
#8
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
The homozygous form of familial hypercholesterolemia (HoFH) is an excellent model for developing in vivo gene therapy in humans. The success of orthotropic liver transplantation in correcting the metabolic abnormalities in HoFH suggests that the correction of low-density lipoprotein receptor (LDLR) expression in hepatocytes via gene therapy should be sufficient for therapeutic efficacy. Vectors based on adeno-associated virus serotype 8 (AAV8) have been previously developed for liver-targeted gene therapy of a number of genetic diseases, including HoFH...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28316443/low-density-lipoprotein-apheresis-in-a-pediatric-patient-of-familial-hypercholesterolemia-primi-experientia-from-a-tertiary-care-center-in-north-india
#9
Kanchan Dogra, Alpesh Goyal, Rajesh Khadgawat, Yashdeep Gupta, Diptiranjan Rout, Parag Prabhakar Fulzele, Rahul Chaurasia, Poonam Coshic, Kabita Chatterjee
Familial hypercholesterolemia (FH) is an autosomal dominant disorder due to mutation of apolipoprotein-B receptor gene causing severe dyslipidemia. Lifestyle modification and medical treatment attenuate the disease progression, but as these fail to control the blood cholesterol levels, low-density lipoprotein (LDL) apheresis comes forth as a treatment option. To the best of our knowledge, the following is the very first case of pediatric FH being treated by LDL-apheresis to be reported from India. A severely malnourished female child presented with yellowish skin lesions over different parts of the body, viz...
January 2017: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/28290784/-the-familial-hypercholesterolemia-caused-by-a-novel-human-low-density-lipoprotein-receptor-gene-mutation-c-1327-t-c-p-w433r
#10
V A Korneva, T Yu Kuznetsova, R Z Murtazina, A V Didio, T Yu Bogoslovskaya, M Yu Mandelshtam, V B Vasilyev
During investigation of molecular nature of familial hypercholesterolemia (FH) in Petrozavodsk (Russia) cohort of patients a novel low density lipoprotein (LDL) receptor gene mutation was found. This mutation designated c.1327 T>C (W443R [W422R]) was predicted to cause substitution of arginine for tryptophan residue in the very conservative -propeller domain of the LDL receptor. Inheritance of the new mutation was traced in four generations and its cosegregation with hypercholesterolemia phenotype was observed...
February 2017: Kardiologiia
https://www.readbyqxmd.com/read/28284702/the-role-of-registries-in-rare-genetic-lipid-disorders-review-and-introduction-of-the-first-global-registry-in-lipoprotein-lipase-deficiency
#11
REVIEW
Elisabeth Steinhagen-Thiessen, Erik Stroes, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, Michaela Dippel, Maurizio R Averna
A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera(®)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan...
August 21, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28284630/treatment-of-heterozygous-familial-hypercholesterolemia-in-children-and-adolescents-an-unsolved-problem
#12
Fernando Civeira, Nuria Plana
No abstract text is available yet for this article.
March 8, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28277798/alirocumab-for-the-treatment-of-hypercholesterolaemia
#13
Brian Tomlinson, Miao Hu, Yuzhen Zhang, Paul Chan, Zhong-Min Liu
Alirocumab is a human monoclonal antibody inhibiting proprotein convertase subtilisin/kexin type 9 (PCSK9) that is administered by subcutaneous injection every 2 weeks. Area covered: Herein, the authors discuss the background to inhibition of PCSK9 and the pharmacodynamics, pharmacokinetics and clinical trials with alirocumab. Alirocumab produces substantial reductions in low density lipoprotein cholesterol (LDL-C) in patients with and without background statin treatment. The safety profile appears very promising from the relatively short term studies that have been completed but there are some remaining concerns about long term risks of neurocognitive events and developing diabetes...
March 9, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28277024/structural-social-support-and-cardiovascular-disease-risk-factors-in-hispanic-latino-adults-with-diabetes-results-from-the-hispanic-community-health-study-study-of-latinos-hchs-sol
#14
Rosalba Hernandez, Mercedes Carnethon, Aida L Giachello, Frank J Penedo, Donghong Wu, Orit Birnbaum-Weitzman, Rebeca Espinoza Giacinto, Linda C Gallo, Carmen R Isasi, Neil Schneiderman, Yanping Teng, Donglin Zeng, Martha L Daviglus
OBJECTIVE(S): Cross-sectional and longitudinal studies have yielded inconsistent findings on the associations of social support networks with cardiovascular health in Hispanic/Latino adults with diabetes. We examined the cross-sectional associations of structural social support and traditional cardiovascular disease (CVD) risk factors in a diverse sample of Hispanic/Latino adults with diabetes. RESEARCH DESIGN AND METHODS: This analysis included 2994 adult participants ages 18-74 with diabetes from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL - 2008-2011)...
February 23, 2017: Ethnicity & Health
https://www.readbyqxmd.com/read/28275165/predicting-cardiovascular-events-in-familial-hypercholesterolemia-the-safeheart-registry
#15
Leopoldo Pérez de Isla, Rodrigo Alonso, Nelva Mata, Cristina Fernández-Pérez, Ovidio Muñiz, José Luis Díaz-Díaz, Adriana Saltijeral, Francisco J Fuentes-Jiménez, Raimundo de Andrés, Daniel Zambón, Mar Piedecausa, José María Cepeda, Marta Mauri, Jesús Galiana, Ángel Brea, Juan F Sanchez Muñoz-Torrero, Teresa Padró, Rosa Argueso, José Pablo Miramontes-González, Lina Badimón, Raúl D Santos, Gerald F Watts, Pedro Mata
Background -Although risk factors for atherosclerotic cardiovascular disease (ASCVD) in familial hypercholesterolaemia (FH) have been described, models for predicting incident ASCVD have not been reported. Our aim was to utilise the SAFEHEART registry to define key risk factors for predicting incident ASCVD in patients with FH. Methods -SAFEHEART is a multicentre, nationwide, long-term prospective cohort study of a molecularly-defined population with FH, with or without previous ASCVD. Analysis to define risk factors and to build a risk prediction equation were developed and tested for its ability to discriminate patients who experience incident ASCVD from those who did not over time...
March 8, 2017: Circulation
https://www.readbyqxmd.com/read/28262545/generation-of-human-liver-chimeric-mice-with-hepatocytes-from-familial-hypercholesterolemia-induced-pluripotent-stem-cells
#16
Jiayin Yang, Yu Wang, Ting Zhou, Lai-Yung Wong, Xiao-Yu Tian, Xueyu Hong, Wing-Hon Lai, Ka-Wing Au, Rui Wei, Yuqing Liu, Lai-Hung Cheng, Guichan Liang, Zhijian Huang, Wenxia Fan, Ping Zhao, Xiwei Wang, David P Ibañez, Zhiwei Luo, Yingying Li, Xiaofen Zhong, Shuhan Chen, Dongye Wang, Li Li, Liangxue Lai, Baoming Qin, Xichen Bao, Andrew P Hutchins, Chung-Wah Siu, Yu Huang, Miguel A Esteban, Hung-Fat Tse
Familial hypercholesterolemia (FH) causes elevation of low-density lipoprotein cholesterol (LDL-C) in blood and carries an increased risk of early-onset cardiovascular disease. A caveat for exploration of new therapies for FH is the lack of adequate experimental models. We have created a comprehensive FH stem cell model with differentiated hepatocytes (iHeps) from human induced pluripotent stem cells (iPSCs), including genetically engineered iPSCs, for testing therapies for FH. We used FH iHeps to assess the effect of simvastatin and proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies on LDL-C uptake and cholesterol lowering in vitro...
March 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28260498/treatment-with-proprotein-convertase-subtilisin-kexin-type-9-pcsk9-inhibitors-to-reduce-cardiovascular-inflammation-and-outcomes
#17
Aldo Bonaventura, Federico Carbone, Alessandra Vecchié, Franco Dallegri, Giovanni G Camici, Fabrizio Montecucco, Luca Liberale
Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) is a serine protease involved in cholesterol homeostasis. After binding to the complex low-density lipoprotein (LDL)-receptor, PCSK9 induces its intracellular degradation, thus reducing serum LDL clearance. PCSK9 is mainly secreted by the liver, but it is also expressed to a lesser extent in other organs. Apart from the well-known activity concerning hepatic LDL receptor-mediated pathway, PCSK9 has been supposed to potentially interfere with vascular inflammation in atherogenesis...
March 3, 2017: Current Medicinal Chemistry
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/28255870/efficacy-and-safety-of-lomitapide-in-hypercholesterolemia
#19
REVIEW
Xin Liu, Peng Men, Yuhui Wang, Suodi Zhai, Zhigang Zhao, George Liu
BACKGROUND: Despite extensive use of statins, patients with hypercholesterolemia, especially homozygous familial hypercholesterolemia (HoFH), do not achieve recommended targets of low-density lipoprotein cholesterol (LDL-C). There is an urgent need for novel options that could reduce proatherogenic lipoprotein cholesterol levels. Lomitapide, a microsomal triglyceride transport protein (MTP) inhibitor, was approved three years ago as an orphan drug for the treatment of patients with HoFH...
March 2, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28250352/frequency-of-achilles-tendon-xanthoma-in-patients-with-acute-coronary-syndrome
#20
Taro Harada, Kyoko Inagaki-Tanimura, Mototsugu Nagao, Yuki Sato, Mariko Sudo, Fumitaka Okajima, Hitoshi Sugihara, Shinichi Oikawa
AIM: We studied the frequency of Achilles tendon xanthoma (ATX) in patients with acute coronary syndrome (ACS). Furthermore, we investigated the differences in clinical findings between ACS patients with and without ATX. METHODS: Patients with ACS (n=335) were admitted to the coronary care unit of Nippon Medical School between July 2011 and December 2014. Informed consent for the measurement of Achilles tendon thickness (ATT) on a radiograph was obtained from 228 patients without tendon rupture...
March 2, 2017: Journal of Atherosclerosis and Thrombosis
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