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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/27920648/synchronous-adenocarcinoma-of-the-colon-and-rectal-carcinoid
#1
Vamshidhar Vootla, Rafeeq Ahmed, Masooma Niazi, Bhavna Balar, Suresh Nayudu
Primary colonic adenocarcinoma and synchronous rectal carcinoids are rare tumors. Whenever a synchronous tumor with a nonmetastatic carcinoid component is encountered, its prognosis is determined by the associate malignancy. The discovery of an asymptomatic gastrointestinal carcinoid during the operative treatment of another malignancy will usually only require resection without additional treatment and will have little effect on the prognosis of the individual. This article reports a synchronous rectal carcinoid in a patient with hepatic flexure adenocarcinoma...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27920219/the-proprotein-convertases-in-hypercholesterolemia-and-cardiovascular-diseases-emphasis-on-proprotein-convertase-subtilisin-kexin-9
#2
REVIEW
Nabil G Seidah, Marianne Abifadel, Stefan Prost, Catherine Boileau, Annik Prat
The secretory proprotein convertase (PC) family comprises nine members, as follows: PC1/3, PC2, furin, PC4, PC5/6, paired basic amino acid cleaving enzyme 4, PC7, subtilisin kexin isozyme 1/site 1 protease (SKI-1/S1P), and PC subtilisin/kexin type 9 (PCSK9). The first seven PCs cleave their substrates at single/paired basic residues and exhibit specific and often essential functions during development and/or in adulthood. The essential SKI-1/S1P cleaves membrane-bound transcription factors at nonbasic residues...
January 2017: Pharmacological Reviews
https://www.readbyqxmd.com/read/27919366/ldl-apheresis-activates-the-complement-system-and-the-cytokine-network-whereas-pcsk9-inhibition-with-evolocumab-induces-no-inflammatory-response
#3
Knut Tore Lappegård, Terje Enebakk, Hilde Thunhaug, Judith Krey Ludviksen, Tom Eirik Mollnes, Anders Hovland
BACKGROUND: Low-density lipoprotein (LDL) apheresis is an extracorporeal treatment modality used in high-risk coronary patients. It may, however, induce complement activation and downstream inflammation due to bio-incompatibility. OBJECTIVE: We explored changes in soluble inflammatory markers when changing from LDL apheresis to the novel PCSK9 inhibitor evolocumab. METHODS: Three patients with familial hypercholesterolemia participated. Blood samples (EDTA plasma) for complement activation and markers of inflammation were obtained before (baseline) and after LDL apheresis week at 0 and before biweekly administration of evolocumab at weeks 1, 3, 5, and 7...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919365/longitudinal-treatment-patterns-among-us-patients-with-atherosclerotic-cardiovascular-disease-or-familial-hypercholesterolemia-initiating-lipid-lowering-pharmacotherapy
#4
James P Burke, Ross J Simpson, Carly J Paoli, Jeffrey T McPheeters, Shravanthi R Gandra
BACKGROUND: The most recent American College of Cardiology-American Heart Association guidelines recommend high-dose statin therapy for most patients with confirmed atherosclerotic cardiovascular disease (ASCVD) and patients with high cardiovascular risk. There is limited information regarding long-term treatment patterns among these patients. OBJECTIVE: To examine longitudinal treatment modifications in patients with ASCVD or familial hypercholesterolemia (FH)...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919357/lipid-phenotype-and-heritage-pattern-in-families-with-genetic-hypercholesterolemia-not-related-to-ldlr-apob-pcsk9-or-apoe
#5
Estíbaliz Jarauta, María Rosario Pérez-Ruiz, Sofia Pérez-Calahorra, Rocio Mateo-Gallego, Ana Cenarro, Montserrat Cofán, Emilio Ros, Fernando Civeira, Maria Teresa Tejedor
BACKGROUND: A substantial proportion of individuals clinically diagnosed as familial hypercholesterolemia (FH) do not carry pathogenic mutations in candidate genes. Whether in them the high cholesterol trait is transmitted monogenically has not been studied. OBJECTIVES: We assessed the inheritance pattern, penetrance, and expression of high low-density lipoprotein (LDL)-cholesterol (LDLc) in families with genetic hypercholesterolemia (GH) without known causative mutations (non-FH-GH)...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919351/identification-of-familial-hypercholesterolemia-in-patients-with-myocardial-infarction-a-chinese-cohort-study
#6
Sha Li, Yan Zhang, Cheng-Gang Zhu, Yuan-Lin Guo, Na-Qiong Wu, Ying Gao, Ping Qing, Xiao-Lin Li, Jing Sun, Geng Liu, Qian Dong, Rui-Xia Xu, Chuan-Jue Cui, Jian-Jun Li
BACKGROUND: Familial hypercholesterolemia (FH) is marked by an elevated plasma cholesterol and risk of premature cardiovascular disease. An increased burden of FH is being realized. OBJECTIVE: To provide data on FH in Chinese patients with myocardial infarction (MI) and its potential contribution to early MI. METHODS: A total of 1843 consecutive patients undergoing coronary angiography with their first MI were recruited. The clinical FH was diagnosed using the Dutch Lipid Clinic Network criteria...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919350/identification-and-characterization-of-severe-familial-hypercholesterolemia-in-patients-presenting-for-cardiac-catheterization
#7
Barak Zafrir, Chen Shapira, Gil Lavie, David A Halon, Moshe Y Flugelman
BACKGROUND: Patients with severe familial hypercholesterolemia (FH) are often unrecognized despite typical presentation. The introduction of PCSK9 inhibitors opens new therapeutic options and emphasizes the need for identification of severe FH patients. OBJECTIVES: The objective was identification, characterization, and management of severe FH patients by screening of cardiac catheterization (CC) database. METHODS: Retrospective analysis of CC database from 2002 to mid-2015 was performed for low-density lipoprotein cholesterol (LDL-C) ≥130 mg/dL (n = 2383)...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919349/familial-combined-hyperlipidemia-and-hyperlipoprotein-a-as-phenotypic-mimics-of-familial-hypercholesterolemia-frequencies-associations-and-predictions
#8
Katrina L Ellis, Jing Pang, Dick C Chan, Amanda J Hooper, Damon A Bell, John R Burnett, Gerald F Watts
BACKGROUND: A significant proportion of index cases presenting with phenotypic familial hypercholesterolemia (FH) are not found to have a pathogenic mutation and may have other inherited conditions. OBJECTIVES: Familial combined hyperlipidemia (FCHL) and elevated lipoprotein(a) [Lp(a)] may mimic FH, but the frequency and correlates of these disorders among mutation-negative FH patients have yet to be established. METHODS: The frequency of FCHL and elevated Lp(a) was investigated in 206 FH mutation-negative index cases attending a specialist lipid clinic...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919346/disease-control-via-intensified-lipoprotein-apheresis-in-three-siblings-with-familial-hypercholesterolemia
#9
Christina Taylan, Andrea Schlune, Thomas Meissner, Karolis Ažukaitis, Floris E A Udink Ten Cate, Lutz T Weber
BACKGROUND: Familial hypercholesterolemia (FH), the prevalent monogenic form of hypercholesterolemia, carries the risk of premature coronary heart disease. Lipoprotein-apheresis is established in children with severe dyslipidemia. We present 3 siblings with a negative/negative residual low-density lipoprotein (LDL) receptor mutation (p.Trp577Arg), unresponsive to drug treatment. OBJECTIVE: Intensified lipoprotein-apheresis is well tolerated and results in permanently low lipid values without harming the health-related quality of life in children...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919345/familial-defective-apolipoprotein-b-100-a%C3%A2-review
#10
REVIEW
Lars H Andersen, André R Miserez, Zahid Ahmad, Rolf L Andersen
Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant genetic disorder of lipid metabolism associated with hyperlipidemia and elevated risk for atherosclerosis. FDB is caused by mutations in APOB reducing the binding affinity between apolipoprotein B-100 and the low-density lipoprotein receptor. Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27913073/attainment-of-ldl-cholesterol-treatment-goals-in-children-and-adolescents-with-familial-hypercholesterolemia-the-safeheart-follow-up-registry
#11
Adriana Saltijeral, Leopoldo Pérez de Isla, Rodrigo Alonso, Ovidio Muñiz, José Luis Díaz-Díaz, Francisco Fuentes, Nelva Mata, Raimundo de Andrés, Gonzalo Díaz-Soto, José Pastor, José Miguel Pinilla, Daniel Zambón, Xavier Pinto, Lina Badimón, Pedro Mata
INTRODUCTION AND OBJECTIVES: Little is known about the characteristics of persons with familial hypercholesterolemia (FH) younger than 18 years, the lipid-lowering therapy used in these patients, and the lipid goals reached in real life. Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry. METHODS: We analyzed patients younger than 18 years enrolled in a large ongoing registry of molecularly-defined patients with FH in Spain...
November 29, 2016: Revista Española de Cardiología
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#12
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27909409/3-5-3-triiodo-l-thyronine-and-3-5-diiodo-l-thyronine-affected-metabolic-pathways-in-liver-of-ldl-receptor-deficient-mice
#13
Maria Moreno, Elena Silvestri, Maria Coppola, Ira J Goldberg, Li-Shin Huang, Anna M Salzano, Fulvio D'Angelo, Joel R Ehrenkranz, Fernando Goglia
3,5,3'-triiodo-L-thyronine (T3) and 3,5-diiodo-L-thyronine (T2), when administered to a model of familial hypercholesterolemia, i.e., low density lipoprotein receptor (LDLr)-knockout (Ldlr(-/-)) mice fed with a Western type diet (WTD), dramatically reduce circulating total and very low-density lipoprotein/LDL cholesterol with decreased liver apolipoprotein B (ApoB) production. The aim of the study was to highlight putative molecular mechanisms to manage cholesterol levels in the absence of LDLr. A comprehensive comparative profiling of changes in expression of soluble proteins in livers from Ldlr(-/-) mice treated with either T3 or T2 was performed...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27908345/determining-when-to-add-nonstatin-therapy-a-quantitative-approach
#14
Jennifer G Robinson, Roeland Huijgen, Kausik Ray, Jane Persons, John J P Kastelein, Michael J Pencina
BACKGROUND: Costs and uncertainty about the benefits of nonstatin therapies limit their use. OBJECTIVES: The authors sought to identify patients who might benefit from the addition of a nonstatin to background statin therapy. METHODS: We performed systematic reviews of subgroup analyses from randomized trials and observational studies with statin-treated participants to determine estimated 10-year absolute risk of atherosclerotic cardiovascular disease (ASCVD) and to define high-risk and very high-risk patients...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27889901/a-novel-approach-to-screening-for-familial-hypercholesterolemia-in-a-large-public-venue
#15
Megan Campbell, Jessa Humanki, Heather Zierhut
The primary aim of this study was to test the feasibility of a public health screening program to identify individuals at high risk of familial hypercholesterolemia through a novel screening approach at a large public venue. A finger-prick, non-fasting lipid panel was obtained, and a survey which consisted of 44 open- and close-ended questions divided into four sections: medical and family history of FH, opinions of cascade genetic testing, patient activation, and demographics was completed. A total of 971 participants met criteria and completed a cholesterol screen...
November 26, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27888902/-unmet-needs-patients-with-statin-intolerance-or-familial-hypercholesterolemia
#16
Luis Masana, Fernando Civeira
The achievement of low-density lipoprotein (LDL) therapeutic targets is especially difficult in some patients at high cardiovascular risk. These patients include persons with statin intolerance and those with very high LDL cholesterol (LDLc) levels such as persons with familial hypercholesterolemia. The proportion of statin-intolerant patients is between 7% and 29%. Alternative lipid-lowering drugs (including ezetimibe) are less effective and are not free from adverse effects. Both alirocumab, with the ODYSSEY ALTERNATIVE study, and evolocumab, with the GAUSS study, have shown strong lipid-lowering efficacy, with much greater tolerability than currently available alternatives, with the result that a larger number of patients achieve therapeutic targets...
May 2016: Clínica e Investigación en Arteriosclerosis
https://www.readbyqxmd.com/read/27886619/open-label-therapy-with-alirocumab-in-patients-with-heterozygous-familial-hypercholesterolemia-results-from-three-years-of-treatment
#17
Robert Dufour, Jean Bergeron, Daniel Gaudet, Robert Weiss, G Kees Hovingh, Zhizhi Qing, Feng Yang, Matthew Andisik, Albert Torri, Robert Pordy, Daniel A Gipe
BACKGROUND: PCSK9 inhibition with alirocumab significantly reduced LDL-C levels in trials of up to 78weeks' duration in patients with heterozygous familial hypercholesterolemia (HeFH). We report results from 3years of an ongoing open-label treatment extension (NCT01576484) to a 12-week double-blind trial in HeFH patients (NCT01266876). METHODS: Patients who completed the parent study and were receiving stable daily statin±ezetimibe could enter the open-label extension, where they received alirocumab 150mg every 2 weeks (Q2W) subcutaneously (n=58)...
November 9, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27882690/the-complexities-of-homozygous-familial-hypercholesterolemia-management
#18
EDITORIAL
Samuel S Gidding
No abstract text is available yet for this article.
December 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27878139/compound-heterozygous-ldlr-variant-in-severely-affected-familial-hypercholesterolemia-patient
#19
Faisal A Al-Allaf, Abdullah Alashwal, Zainularifeen Abduljaleel, Mohiuddin M Taher, Abdellatif Bouazzaoui, Hala Abalkhail, Ahmad F Al-Allaf, Mohammad Athar
Familial hypercholesterolemia (FH) is most commonly caused by mutations in the LDL receptor (LDLR), which is responsible for hepatic clearance of LDL from the blood circulation. We described a severely affected FH proband and their first-degree blood relatives; the proband was resistant to statin therapy and was managed on an LDL apheresis program. In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed. We identified a compound heterozygous mutation in the proband with missense p...
November 23, 2016: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/27872832/prevalence-of-risk-factors-for-cardiovascular-and-kidney-disease-in-brazilian-healthy-preschool-children
#20
Adriana Cândida da Silva, Marcelo de Sousa Tavares, Maria Goretti Moreira Guimarães Penido
AIM: To investigate the prevalence of nutritional parameters of risk for cardiovascular disease (CVD) and kidney diseases in healthy preschool children. METHODS: This is an observational cross-sectional study with 60 healthy children, of both genders, aged two to six years old and 56 mothers, in Belo Horizonte, Minas Gerais, Brazil. Preschool children and their families with regular activities at public schools were invited to paticipate in the study. The following characteristics were assessed: Socio-demographic condictions, clinical health, anthropometric, biochemical, lifestyle and data on food consumption...
November 6, 2016: World Journal of Nephrology
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