Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

The Lancet ◽  
2013 ◽  
Vol 381 (9874) ◽  
pp. 1293-1301 ◽  
Author(s):  
Philippa J Talmud ◽  
Sonia Shah ◽  
Ros Whittall ◽  
Marta Futema ◽  
Philip Howard ◽  
...  
2014 ◽  
Vol 105 (8) ◽  
pp. e3054-e3062 ◽  
Author(s):  
Jakob Starup-Linde ◽  
Soeren Gregersen ◽  
Peter Vestergaard

Abstract Aim Diabetes Mellitus is associated with an increased risk of fractures, which is not explained fully by bone mineral density and common risk factors. The aim of this study is to investigate the association of medication and biochemical markers on the risk of fracture in a diabetes population. Methods Nested case-control study based on Danish diabetes patients from The Danish National Hospital Discharge Registry. The cases of the study were diabetes patients with a fracture (n= 24,349) and controls were diabetes patients with no fracture (n=132,349). A total of 2,816 diabetes patients were available for an analysis of patient characteristics, co-morbidities, biochemical parameters and drug usage. Results Patient age at the time of diabetes diagnosis, a diagnosis of previous fracture, an alcohol related diagnosis, total cholesterol level, and the usage of antidepressants, antiepileptics and insulin all increased the odds of fracture. Low-density lipoprotein cholesterol (LDL) levels decreased the odds of fracture, where the level of 3.04–5.96 mmol/l was optimal with regard to fracture risk. Conclusion LDL may add to the understanding of fractures in diabetes patients and it may be added to current fracture risk models in diabetes patients.


2013 ◽  
Vol 24 (3) ◽  
pp. 437-441 ◽  
Author(s):  
Avishay Elis ◽  
Rong Zhou ◽  
Evan A. Stein

AbstractBackground:This study evaluated the effectiveness of long-term intensive lipid-lowering therapy in children and adolescents with familial hypercholesterolaemia.Methods:The charts of 89 children and adolescents with heterozygous familial hypercholesterolaemia among ∼1000 patients treated from 1974 to 2008 were reviewed. Familial hypercholesterolaemia was defined as low-density lipoprotein cholesterol level >90th percentile in individuals with a history of familial hypercholesterolaemia.Results:Of the 89 patients, 51% were male; the mean age at diagnosis was 8 ± 4 years, and the mean follow-up was 13 ± 8 years. Baseline and most recent low-density lipoprotein cholesterol levels (mg/dl) under treatment were 250 ± 50 and 142 ± 49, respectively, reduced 43% from baseline (p < 0.0001). At the most recent visit, 39 patients received statin monotherapy, mainly atorvastatin or rosuvastatin, and 50 (56%) patients received combination therapy, mainly vytorin or rosuvastain/ezetimibe, 15 patients were >30 years of age, and none developed symptomatic cardiovascular disease or needed revascularisation.Conclusions:Long-term statin-based therapy can reduce low-density lipoprotein cholesterol levels in most children and adolescents with heterozygous familial hypercholesterolaemia and decrease cardiovascular risk significantly.


2019 ◽  
Vol 47 (2) ◽  
pp. 161-168 ◽  
Author(s):  
Paula J. Correa ◽  
Pia Venegas ◽  
Yasna Palmeiro ◽  
Daniela Albers ◽  
Gregory Rice ◽  
...  

AbstractObjectivesTo evaluate the first trimester maternal biomarkers for early pregnancy prediction of gestational diabetes mellitus (GDM).MethodsThe study was a case-control study of healthy women with singleton pregnancies at the first trimester carried out at the Obstetrics and Gynecology Unit, Clinica Davila, Santiago, Chile. After obtaining informed consent, peripheral blood samples of pregnant women under 14 weeks of gestation were collected. At 24–28 weeks of pregnancy, women were classified as GDM (n=16) or controls (n=80) based on the results of a 75-g oral glucose tolerance test (OGTT). In all women, we measured concentrations of fasting blood glucose, insulin, glycated hemoglobin, uric acid, cholesterol, high density lipoprotein (HDL), low density lipoprotein (LDL), very low density lipoprotein (VLDL), triglycerides, aspartate aminotransferase (AST), alanine aminotransferase (ALT), γ-glutamyl transpeptidase (GGT), alkaline phosphatase (AP), sex hormone-binding globulin (SHBG), adiponectin, tissue plasminogen activator (t-PA), leptin and placental growth factor (PGF).ResultsThe GDM group displayed an increased median concentration of cholesterol (P=0.04), triglycerides (P=0.003), insulin (P=0.003), t-PA (P=0.0088) and homeostatic model assessment (HOMA) (P=0.003) and an increased mean concentration of LDL (P=0.009) when compared to the control group. The receiver operating characteristic (ROC) curve for significant variables achieved an area under the curve (AUC) of 0.870, a sensitivity of 81.4% and a specificity of 80.0%. The OGTT was positive for GDM according to the IADPSG (International Diabetes in Pregnancy Study Group) criteria.ConclusionWomen who subsequently developed GDM showed higher levels of blood-borne biomarkers during the first trimester, compared to women who did not develop GDM. These data warrant validation in a larger cohort.


2020 ◽  
Vol 5 (02) ◽  
pp. 102-108 ◽  
Author(s):  
Sudha Bala ◽  
Archana Mavoori ◽  
Harshal Pandve ◽  
Chinmayee Biswal ◽  
Vijay Prasanna ◽  
...  

Abstract Background and Aim Psoriasis have a direct impact on development of cardiovascular risk factors leading to atherosclerosis and metabolic abnormalities. In order to prevent the complications, early and prompt identification of factors through various parameters help in primary and secondary prevention of cardiovascular diseases (CVDs) among these psoriatic patients. Therefore the aim of this study is to determine the prevalence of various determinants for cardiovascular diseases among cases and controls. Methods A hospital based case control study at a tertiary care hospital included women from the out patient department, aged above 18 years who were known cases of psoriasis. 114 patients were recruited with 1:1 ratio between cases and controls. All patients were evaluated using semi structured interview schedule with socio demographic variables, duration of disease, family history, and usage of drugs. Severity of disease was assessed through the psoriasis area severity index (PASI). Body surface area (BSA), body mass index (BMI), waist circumference and blood pressure measurement were done using standard methods. Lipid profile, high sensitivity C-Reactive protein (HsCRP) and blood sugar through calibrated analyzers having quality control. Carotid intima media thickness (CIMT) was assessed by using carotid Doppler technique to measure atherosclerosis. Results One hundred fourteen patients, means 57 pairs of cases and controls were analyzed in this study. Significant determinants among cases were raised such as waist circumference (p = 0.025), diastolic blood pressure (p = 0.0001), low density lipoprotein (p = 0.002) and fasting blood glucose (p = 0.004) when compared to controls. HsCRP and CIMT were also raised among cases but only CIMT was statistically significant when compared to controls (p = 0.0001). We also found raised determinants among psoriatic arthritis patients compared to psoriasis. Conclusion Psoriasis patients had high waist circumference, diastolic blood pressure, low density lipoprotein, fasting blood glucose, and CIMT when compared to controls. Early identification of these determinants make them amenable for prevention.


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