Results 101 to 110 of about 30,354 (250)

Early‐onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease

Clinical Case Reports
Key Clinical Message Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease.
Harsimran Kalsi, Ankur Singla, Sukhjot Kaur, Amogh Verma, Nathnael Abera Woldehana, Sarvesh Rustagi, Mahendra Pratap Singh   +6 more
doaj   +1 more source

GalNAc-Lipid nanoparticles enable non-LDLR dependent hepatic delivery of a CRISPR base editing therapy

Nature Communications, 2023
Lipid nanoparticles have demonstrated utility in hepatic delivery of a range of therapeutic modalities and typically deliver their cargo via low-density lipoprotein receptor-mediated endocytosis.
Lisa N. Kasiewicz, Souvik Biswas, Aaron Beach, Huilan Ren, Chaitali Dutta, Anne Marie Mazzola, Ellen Rohde, Alexandra Chadwick, Christopher Cheng, Sara P. Garcia, Sowmya Iyer, Yuri Matsumoto, Amit V. Khera, Kiran Musunuru, Sekar Kathiresan, Padma Malyala, Kallanthottathil G. Rajeev, Andrew M. Bellinger   +17 more
doaj   +1 more source

Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease? [PDF]

, 2019
Lysosomal acid lipase (LAL) plays a key role in intracellular lipid metabolism. Reduced LAL activity promotes increased multi-organ lysosomal cholesterol ester storage, as observed in two recessive autosomal genetic diseases, Wolman disease and ...
Angelico, F, Baratta, F, Carluccio, G, Del Ben, M, Ferro, D, Pastori, D, Tozzi, G, Violi, F   +7 more
core   +1 more source

Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia [PDF]

Canadian Medical Association Journal, 2005
Familial hypercholesterolemia (FH) is characterized by the accumulation of excess cholesterol in tissues including the artery wall and tendons. We describe a patient with homozygous FH who presented with asymptomatic cholesterol granuloma of the brain.
Gordon A, Francis, Royce L, Johnson, J Max, Findlay, Jian, Wang, Robert A, Hegele   +4 more
openaire   +2 more sources

Preventing Atherosclerotic Cardiovascular Disease in Young Male Androgen Abusers

Clinical Cardiology, Volume 49, Issue 2, February 2026.
Androgen abuse is an underrecognized ASCVD risk enhancer in young men. Improved risk assessment—integrating androgen exposure, imaging, and individualized prevention—may help in the management of long‐term cardiovascular risk in this population. ABSTRACT Background Androgen abuse among young men is a prevalent yet under recognized risk factor for ...
Peter Bond, Diederik L. Smit, Tijs Verdegaal, Willem de Ronde   +3 more
wiley   +1 more source

Pregnancy in a Woman with Homozygous Familial Hypercholesterolemia Not on Low-Density Lipoprotein Apheresis

American Journal of Perinatology Reports, 2012
Pregnancy in women with homozygous familial hypercholesterolemia (FH) has been rarely reported and might pose risks on the mother and her fetus. Although most reported cases remained on low-density lipoprotein (LDL) apheresis, there are no clear ...
Akl C. Fahed, Anwar H. Nassar
doaj   +1 more source

Unpacking and understanding the impact of proprotein convertase subtilisin/kexin type 9 inhibitors on apolipoprotein B metabolism [PDF]

, 2017
No abstract ...
Packard, Chris J.
core   +1 more source

Discovery of Lomitapide as a Novel Mast Cell Regulatory Agent Through Chemical Library Screening

European Journal of Immunology, Volume 56, Issue 2, February 2026.
Chemical library screening identified lomitapide as a novel mast cell (MC) regulatory agent. Lomitapide selectively inhibits IgE/Ag‐ or phorbol 12‐myristate 13‐acetate (PMA)/ionomycin‐mediated MC degranulation by altering plasma membrane dynamics, including endocytosis and membrane fusion. ABSTRACT Allergic diseases are a global health concern, and new
Shiori Mamorita, Atsushi Furukawa, Yuka Nagata, Ryo Suzuki   +3 more
wiley   +1 more source

Xanthomas Regression in an 8-Year-Old Boy Treated With Lomitapide

JACC: Case Reports, 2019
This case reports on an 8-year-old boy with homozygous familial hypercholesterolemia with large tuberous xanthomas over his hands, elbows, buttocks, knees, and feet.
Genovefa Kolovou, MD, PhD, Aleksandros Tsoutsinos, MD, Irene Mastorakou, MD, MSc, PhD, Sophie Mavrogeni, MD, PhD, George Hatzigeorgiou, MD   +4 more
doaj   +1 more source

A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemia [PDF]

, 2006
Context: Individuals with the functional ER22/23EK variant in the glucocorticoid receptor gene are relatively resistant to the downstream consequences of glucocorticoids.
Dallinga-Thie, G.M. (Geesje), Defesche, J.C. (Joep), Kastelein, J.J.P. (John), Koeijvoets, K.C.M.C. (Kristel), Lamberts, S.W.J. (Steven), Rossum, E.F.C. (Liesbeth) van, Sijbrands, E.J.G. (Eric), Steyerberg, E.W. (Ewout)   +7 more
core   +1 more source