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Journal of Clinical Lipidology

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https://www.readbyqxmd.com/read/30007774/first-case-of-sitosterolemia-caused-by-double-heterozygous-mutations-in-abcg5-and-abcg8-genes
#1
Hayato Tada, Akihiro Nomura, Masakazu Yamagishi, Masa-Aki Kawashiri
We present the first case of sitosterolemia caused by double heterozygous mutations in adenosine triphosphate-binding cassette subfamily G members 5 and 8 (ABCG5 and ABCG8) genes. A 1-year-old girl was admitted to Kanazawa University Hospital due to her hyper low-density lipoprotein (LDL)-cholesterolemia (453 mg/dL) as well as intertriginous xanthomas associated with breastfeeding. Initially, she was suspected as familial hypercholesterolemia (FH). However, her LDL cholesterol level significantly reduced after her weaning from breastfeeding...
June 20, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29945780/creatine-supplementation-does-not-alter-the-creatine-kinase-response-to-eccentric-exercise-in-healthy-adults-on-atorvastatin
#2
Beth A Taylor, Gregory Panza, Kevin D Ballard, C Michael White, Paul D Thompson
BACKGROUND: Serum creatine kinase (CK) levels are higher after eccentric, muscle-damaging exercise in statin-treated patients. This could contribute to the increased statin-associated muscle symptoms reported in physically active individuals. OBJECTIVE: We tested the hypothesis in this pilot study that creatine (Cr) monohydrate supplementation would reduce the CK response to eccentric exercise in patients using statins to determine if Cr supplementation could be a strategy to mitigate statin-associated muscle symptoms in physically active individuals...
June 2, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29954705/co-occurrence-of-heterozygous-creb3l3-and-apoa5-nonsense-variants-and-polygenic-risk-in-a-patient-with-severe-hypertriglyceridemia-exacerbated-by-estrogen-administration
#3
Cezary Wójcik, Sergio Fazio, Adam D McIntyre, Robert A Hegele
We describe a case of a 36-year-old woman with severe hypertriglyceridemia likely caused by double heterozygosity of a known pathogenic APOA5 nonsense variant (p.Q275X) and a novel CREB3L3 nonsense variant (p.C296X) on a background of very strong polygenic susceptibility. Her clinical course worsened with development of eruptive xanthomata after oral administration of 2 mg estradiol twice daily for 2 weeks as part of a medical protocol for intrauterine embryo transfer following in vitro fertilization. Her triglyceride levels decreased to baseline and xanthomata resolved without treatment after discontinuation of hormonal therapy, which also resulted in termination of pregnancy...
June 1, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29945779/pcsk9-monoclonal-antibody-on-a-knife-edge-an-article-of-faith-in-fh
#4
EDITORIAL
Natalie C Ward, Gerald F Watts
No abstract text is available yet for this article.
June 1, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29941396/the-odyssey-outcomes-trial-clinical-implications-and-exploration-of-the-limits-of-what-can-be-achieved-through-lipid-lowering
#5
EDITORIAL
Kevin C Maki
No abstract text is available yet for this article.
June 1, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29866529/case-report-rapid-regression-of-xanthomas-under-lipoprotein-apheresis-in-a-boy-with-homozygous-familial-hypercholesterolemia
#6
Julius Katzmann, Carsten Schürfeld, Winfried März, Ulrich Laufs
Xanthomas are visibly deforming cholesterol deposits that develop after long-term exposure to high serum low-density lipoprotein cholesterol concentrations. We present the case of a 10-year-old boy suffering from homozygous familial hypercholesterolemia with generalized atherosclerosis and large xanthomas. The case impressively demonstrates the potential of low-density lipoprotein cholesterol lowering to rapidly regress pathologic cutaneous manifestations of hypercholesterolemia.
June 1, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29935932/-taking-a-look-under-the-hood-imaging-the-phenotypic-heterogeneity-of-familial-hypercholesterolemia
#7
EDITORIAL
Michael D Shapiro, Sergio Fazio
No abstract text is available yet for this article.
May 30, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/30007775/pediatric-lipid-reference-values-in-the-general-population-the-dutch-lifelines-cohort-study
#8
J W Balder, P J Lansberg, M H Hof, A Wiegman, B A Hutten, J A Kuivenhoven
BACKGROUND: Atherosclerosis starts in childhood and its progression is influenced by lifelong low-density lipoprotein cholesterol (LDL-c) exposure, the so-called cholesterol burden. Early identification of children and adolescents with severely elevated LDL-c is thus of major clinical significance. This is especially true for children with familial hypercholesterolemia (FH), a frequent but undertreated genetic disorder. To identify children with possible FH, insight in the distribution of lipid levels in children is a prerequisite...
May 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29941395/association-between-high-density-lipoprotein-subfractions-and-low-grade-inflammation-insulin-resistance-and-metabolic-syndrome-components-the-elsa-brasil-study
#9
Giuliano Generoso, Isabela M Bensenor, Raul D Santos, Itamar S Santos, Alessandra C Goulart, Steven R Jones, Krishnaji R Kulkarni, Michael J Blaha, Peter P Toth, Paulo A Lotufo, Marcio Sommer Bittencourt
BACKGROUND: High-density lipoprotein cholesterol (HDL-C) can be divided into subfractions, which may have variable effects in atherogenesis. The results about the association between HDL-C subfractions and risk factors for cardiovascular disease are mixed. OBJECTIVE: The objective of this study was to analyze the association between HDL-C subfractions and each metabolic syndrome component, homeostasis model assessment-estimated insulin resistance (HOMA-IR) and C-reactive protein (CRP)...
May 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29921556/treatment-related-and-health-related-quality-of-life-in-lipoprotein-apheresis-patients
#10
V De Gucht, K Cromm, A Vogt, U Julius, B Hohenstein, R M Spitthöver, W Ramlow, V J J Schettler, S Maes
BACKGROUND: There is evidence for beneficial effects of lipoprotein apheresis (LA) in terms of reduction of cardiovascular events and interventions, but quality of life (QOL) in LA patients has only been explored in small samples. OBJECTIVE: In this study, both LA- or treatment-related and health-related QOL (HRQOL) were assessed in 206 LA patients. METHODS: Mental and physical HRQOL of the LA patients was assessed by means of the SF-12 as well as the EQ-5D...
May 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29909976/pcsk9-inhibitors-in-familial-hypercholesterolemia-what-is-the-evidence
#11
EDITORIAL
Martine Paquette, Robert A Hegele, Alexis Baass
No abstract text is available yet for this article.
May 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29937398/immune-mediated-acquired-lecithin-cholesterol-acyltransferase-deficiency-a-case-report-and-literature-review
#12
Ryoichi Ishibashi, Minoru Takemoto, Yuya Tsurutani, Masayuki Kuroda, Makoto Ogawa, Hanae Wakabayashi, Noriko Uesugi, Michio Nagata, Naofumi Imai, Akiko Hattori, Kenichi Sakamoto, Takumi Kitamoto, Yoshiro Maezawa, Ichiei Narita, Sadayuki Hiroi, Ayaka Furuta, Takashi Miida, Koutaro Yokote
BACKGROUND: Recessive inherited disorder lecithin-cholesterol acyltransferase (LCAT) deficiency causes severe hypocholesterolemia and nephrotic syndrome. Characteristic lipoprotein subfractions have been observed in familial LCAT deficiency (FLD) with renal damage. OBJECTIVE: We described a case of acquired LCAT deficiencies with literature review. METHODS: The lipoprotein profiles examined by gel permeation-high-performance liquid chromatography (GP-HPLC) and native 2-dimensional electrophoresis before and after prednisolone (PSL) treatment...
May 15, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29793828/sex-steroids-mediate-discrete-effects-on-hdl-cholesterol-efflux-capacity-and-particle-concentration-in-healthy-men
#13
Katya B Rubinow, Tomas Vaisar, Jing H Chao, Jay W Heinecke, Stephanie T Page
BACKGROUND: Exogenous testosterone decreases serum concentrations of high-density lipoprotein cholesterol (HDL-C) in men, but whether this alters cardiovascular risk is uncertain. OBJECTIVE: To investigate the effects of testosterone and estradiol on HDL particle concentration (HDL-Pima) and metrics of HDL function. METHODS: We enrolled 53 healthy men, 19 to 55 years of age, in a double-blinded, placebo-controlled, randomized trial. Subjects were rendered medically castrate using the GnRH receptor antagonist acyline and administered either (1) placebo gel, (2) low-dose transdermal testosterone gel (1...
April 30, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784574/highly-efficacious-long-term-triglyceride-lowering-with-rituximab-therapy-in-a-patient-with-autoimmune-hypertriglyceridemia
#14
Sophie Béliard, Mathilde Di Filippo, Gilles Kaplanski, René Valéro
We report the first case of an autoimmune hypertriglyceridemia successfully treated with rituximab, an anti-CD20-targeted monoclonal antibody. A 45-year-old man, with prior autoimmune conditions, developed severe, acquired hypertriglyceridemia resistant to traditional triglyceride lowering therapies. After the elimination of secondary or genetic causes, we detected the presence of anti-LPL-IgG by immunoblot. After 3 infusions of rituximab, we observed a marked improvement of his hypertriglyceridemia, concomitant with a reduction in plasma anti-LPL antibody titer and B-lymphocytes counts...
April 30, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784573/phactr1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#15
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most frequent autosomal codominant disease worldwide and is characterized by elevated low-density lipoprotein cholesterol and premature coronary artery disease (CAD). Polymorphisms in phosphatase and actin regulator 1 (PHACTR1) have been shown to be associated with cardiovascular risk in large genome-wide association studies studies. OBJECTIVE: The aim of the present study is to evaluate the association between the rs12526453 polymorphism in the PHACTR1 gene and the prevalence of CAD in FH patients...
April 30, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29804909/familial-chylomicronemia-syndrome-bringing-to-life-dietary-recommendations-throughout-the-life-span
#16
Lauren Williams, Katherine S Rhodes, Wahida Karmally, Lori A Welstead, Lori Alexander, Lindsey Sutton
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder with loss of function mutations of lipoprotein lipase resulting in hypertriglyceridemia and accumulation of chylomicrons in plasma, often leading to acute pancreatitis. The mainstay of treatment is a specialized very-low-fat diet. Even adhering to the diet, some patients may experience high triglycerides and pancreatitis. There currently are no comprehensive dietary guidelines. OBJECTIVE: To report best practices and develop comprehensive dietary guidelines for nutrition therapy in patients with FCS...
April 27, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29803357/trends-in-high-intensity-statin-use-and-low-density-lipoprotein-cholesterol-control-among-patients-enrolled-in-a-clinical-pharmacy-cardiac-risk-service
#17
Donald G Lamprecht, Paul B Shaw, Jordan B King, Keri N Hogan, Kari L Olson
BACKGROUND: Although high-intensity statin therapy (HIST) is recommended for most patients between 21 and 75 years of age with atherosclerotic cardiovascular disease (ASCVD), several recent analyses examining contemporary statin use trends have identified a clinical care gap in the utilization of HIST. OBJECTIVE: The objective of this study was to assess secular trends in lipid management for patients with ASCVD enrolled in a clinical pharmacy program within an integrated health care delivery system...
April 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784572/the-burden-of-familial-chylomicronemia-syndrome-results-from-the-global-in-focus-study
#18
Michael Davidson, Michael Stevenson, Andrew Hsieh, Zahid Ahmad, Jeanine Roeters van Lennep, Caroline Crowson, Joseph L Witztum
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS...
April 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784571/familial-hypercholesterolemia-with-extensive-coronary-artery-disease-and-tuberous-and-tendinous-xanthomas-a-case-report-and-mutation-analysis
#19
Deniz Agirbasli, Tommy Hyatt, Mehmet Agirbasli
This is a case report of a 38-year-old Syrian refugee male with early-onset extensive atherosclerosis. The physical and laboratory examination were remarkable with severe xanthomas in the upper and lower extremities and with low-density lipoprotein cholesterol (LDL-C) 417 mg/dL, total cholesterol 495 mg/dL, high-density lipoprotein cholesterol 30 mg/dL, and triglycerides 242 mg/dL. LDL-C level responded poorly to the high-dose statin treatment. The genetic analysis indicated that the patient had a large homozygous deletion in LDL receptor gene including the exons 7-14...
April 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29779997/variations-in-time-to-benefit-among-clinical-trials-of-cholesterol-lowering-drugs
#20
Philip J Barter, David D Waters
BACKGROUND: Time to benefit (TTB) in clinical trials of cholesterol-lowering drugs is important because it may provide a clue as to the potential mechanism of action of the drug, it is helpful in determining when to stop a trial for futility, and it may inform treatment decisions in subjects with reduced life expectancy. OBJECTIVE: To compare TTB among clinical trials of cholesterol-lowering drugs. METHODS: We examined TTB in 24 trials of cholesterol-lowering drugs with positive outcomes...
April 21, 2018: Journal of Clinical Lipidology
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