Cholesterol deficiency (CD) in Holstein cattle, caused by a loss-of-function mutation in the A total of 188 cows were classified by lactation: 1 The heterozygous CD genotype was identified in 17.02% o Show more
Cholesterol deficiency (CD) in Holstein cattle, caused by a loss-of-function mutation in the A total of 188 cows were classified by lactation: 1 The heterozygous CD genotype was identified in 17.02% of the population, with wild-type and mutant allele frequencies of 0.91 and 0.09, respectively. Non-carriers showed marginally higher fat, protein, and cholesterol levels, with a statistically significant difference in fat content (p = 0.04). When stratified by lactation, significant differences were observed for fat content in the 1 This study confirms the presence of the CD-associated Show less
Cezary Wójcik · 2020 · Postgraduate medicine · Taylor & Francis · added 2026-04-24
Atherosclerotic cardiovascular disease (ASCVD) is the main cause of morbidity and mortality in the US. ASCVD is caused by elevated levels of ApoB lipoproteins, which over many years penetrate the arte Show more
Atherosclerotic cardiovascular disease (ASCVD) is the main cause of morbidity and mortality in the US. ASCVD is caused by elevated levels of ApoB lipoproteins, which over many years penetrate the arterial subendothelial space leading to plaque growth and eventually rupture causing clinical symptoms. ApoB lipoprotein levels are approximated in clinical practice by LDL-C measurement. LDL-C lowering agents (statins, ezetimibe, and PCSK9 inhibitors) reduce cardiovascular risk in primary and secondary prevention proportionally to LDL-C reduction (23% per 1 mmol/L of LDL). However, for a variety of reasons, many patients do not achieve their recommended LDL-C levels using currently available therapies. This has prompted the development of new LDL-C lowering drugs in the hope to reduce cardiovascular risk, such as bempedoic acid, inclisiran, gemcabene, and evinacumab. Drugs targeting other lipids (triglycerides, HDL-C, lipoprotein (a)), intravascular inflammation or acting by other mechanisms also have a role in atherosclerosis prevention, however, they will not be covered in this review. ACLY: (ATP-citrate lyase); ANGPTL: (angiopoietin-like protein 3); ASCVD: (atherosclerotic cardiovascular disease); BPA: (bempedoic acid); CETP (cholesteryl ester transfer protein); CV: (cardiovascular); CVD: (cardiovascular diseases); FH (familial hypercholesterolemia); HMGCR ( Show less
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 va Show more
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. Before undergoing a second embryo transfer using her natural cycle and no exogenous hormones, the patient started combination therapy with eicosapentaenoic acid ethyl ester and gemfibrozil, leading to an ∼80% decrease in triglyceride levels. She continued treatment throughout pregnancy, which progressed to term with the delivery of healthy twins. Show less