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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH are reported, a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis. Expand
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
- P. Hopkins, J. Defesche, +39 authors G. Swergold
- Circulation. Cardiovascular genetics
- 1 December 2015
Alirocumab, a PCSK9 antibody, markedly lowers LDL-C levels and seems to be well tolerated in these patients, who are at high risk of premature cardiovascular disease. Expand
Nutritional AMD Treatment Phase I (NAT-1): Feasibility of Oral DHA Supplementation in Age-Related Macular Degeneration
- G. Querques, P. Benlian, +4 authors E. Souied
- Biology, Medicine
- European journal of ophthalmology
- 1 January 2009
This study supports the feasibility of a long-term double-masked prospective case-control study in an AMD population in order to evaluate a potential benefit from oral supplementation with DHA. Expand
'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.
- Y. Goussault, E. Turpin, +4 authors J. Rouffy
- Chemistry, Medicine
- Clinica chimica acta; international journal of…
- 18 August 1982
A 76-year-old man was found to have a false hypertriglyceridemia due to a 40-fold increased glycerolemia because of a deficiency in glycerol kinase, and the small number of this family's members did not allow to specify the mode of transmission of this genetic trait. Expand
Efficacy and tolerability profile of nebivolol vs atenolol in mild‐to‐moderate essential hypertension: Results of a double‐blind randomized multicentre trial
- G. Grassi, F. Q. Trevano, A. Facchini, T. Toutouzas, B. Chanu, G. Mancia
- Blood pressure. Supplement
- 1 January 2003
Evidence is provided, that, for the same antihypertensive effects, nebivolol shows a better tolerability profile than atenolol and a lower incidence of adverse effects. Expand
DHA supplementation for late onset Stargardt disease: NAT-3 study
DHA seems to influence some functional parameters in patients affected with late onset Stargardt disease, however, no short-term benefit should be expected from DHA supplementation. Expand
Efficacy and safety of simvastatin (alone or in association with cholestyramine). A 1-year study in 66 patients with type II hyperlipoproteinaemia.
The effects and safety of simvastatin, an inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, were investigated alone or in association with cholestyramine in 66 patients with… Expand
Atherogenic dyslipidemia and risk of silent coronary artery disease in asymptomatic patients with type 2 diabetes: a cross-sectional study
- P. Valensi, A. Avignon, A. Sultan, B. Chanu, M. Nguyen, E. Cosson
- Cardiovascular Diabetology
- 22 July 2016
Atherogenic dyslipidemia was associated with an increased risk of SMI and silent CAD in patients with type 2 diabetes and LDL cholesterol levels <3.35 mmol/L. Expand
Comparative evaluation of the effects of ciprofibrate and fenofibrate on lipids, lipoproteins and apoproteins A and B.
Comparison of the 2 drugs at the optimal dosages, after 9 months of treatment, showed ciprofibrate to be more effective in increasing HDL cholesterol and apo A than fenofibrate, and no other significant differences in terms of either therapeutic efficacy or biological tolerance became apparent. Expand
[Cutaneous localizations of disseminated Histoplasma capsulatum histoplasmosis in a case of acquired immunodeficiency].
A widespread maculo-papular cutaneous rash appeared on a HIV-positive young bisexual Cambodian man, who was treated for Mycobacterium tuberculosis and Pneumocystis carinii infections, and despite initiation of therapy with amphotericin B the patient died. Expand