Results 91 to 100 of about 30,028 (235)

Analysis of HDL-microRNA panel in heterozygous familial hypercholesterolemia subjects with LDL receptor null or defective mutation

Scientific Reports, 2019
In the last years increasing attention has been given to the connection between genotype/phenotype and cardiovascular events in subjects with familial hypercholesterolemia (FH).
R. Scicali, A. Di Pino, C. Pavanello, A. Ossoli, A. Strazzella, Antonia Alberti, S. Di Mauro, A. Scamporrino, F. Urbano, A. Filippello, S. Piro, A. M. Rabuazzo, L. Calabresi, F. Purrello   +13 more
semanticscholar   +1 more source

Acute Intermittent Porphyria Triggered by COVID‐19 Mimicking Guillain–Barré Syndrome: A Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Payman Sadeghi, Masood Ghahvechi Akbari, Seyed Abbas Hassani, Hosein Alimadadi, Morteza Heidari, Vahid Ziaee   +5 more
wiley   +1 more source

Patients' Attitudes Toward Detection of Heterozygous Familial Hypercholesterolemia

, 1997
BACKGROUND: Molecular biology has improved the diagnostic abilities of physicians and enabled them to identify apparently healthy persons with a high risk of genetic disease. OBJECTIVE: To examine the attitudes toward detection of disease and the present
Andersen, Lone K., Faergeman, Ole, Juul, Svend, Jensen, Henrik K.   +3 more
core   +1 more source

Heterozygous c.1730G > C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia

, 2022
Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes.Case report: A 4 ...
KÖKSAL, Mehmet, Dogan, Mustafa, Eroz, Recep   +2 more
core   +1 more source

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

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)

Circulation, 2017
Background: Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disorder leading to premature atherosclerosis. Children with HeFH exhibit early signs of atherosclerosis manifested by increased carotid intima-media thickness (IMT ...
Braamskamp M, Langslet G, Mccrindle Bw, Cassiman D, Francis Ga, G. C., Gaudet D, Morrison Km, W. A, Turner T, M. E, Kusters Dm, Raichlen Js, Martino R Pd, Stein Ea, Kastelein Jjp, Hutten Ba   +16 more
semanticscholar   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Optimizing Oligonucleotide Therapeutics: A Model‐Informed Drug Development Perspective

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Oligonucleotide therapies have emerged as a powerful therapeutic class, providing novel solutions for diverse diseases through antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and aptamers that specifically target and modulate gene expression or protein function. However, oligonucleotide development faces distinct challenges,
Ye Yuan, Vishnu Sharma, Venkatesh Atul Bhattaram, Xiaolei Pan, Justin Earp, Yun Wang, Jiang Liu, Hao Zhu   +7 more
wiley   +1 more source

Next-generation sequencing to confirm clinical familial hypercholesterolemia

, 2021
BACKGROUND: Familial hypercholesterolemia is characterised by high low-density lipoprotein-cholesterol levels and is caused by a pathogenic variant in LDLR, APOB or PCSK9.
Reeskamp, Laurens F., Defesche, Joep C., Hovingh, G. Kees, Zuurbier, Linda, Grefhorst, Aldo, Tromp, Tycho R., Stroes, Erik S. G.   +6 more
core   +1 more source