Results 51 to 60 of about 224,441 (293)

Lipoprotein(a) in children and adolescents with genetically confirmed familial hypercholesterolemia followed up at a specialized lipid clinic

Atherosclerosis Plus
Background and aim: Many children with an FH mutation also exhibit elevated lipoprotein(a) levels, which is an independent risk factor for atherosclerotic cardiovascular disease.
Anja K. Johansen, Martin P. Bogsrud, Magne Thoresen, Jacob J. Christensen, Ingunn Narverud, Gisle Langslet, Tone Svilaas, Kjetil Retterstøl, Kirsten B. Holven   +8 more
doaj   +1 more source

Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

Data in Brief, 2016
These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age.
Frederick J. Raal, Barbara Sjouke, G. Kees Hovingh, Barton F. Isaac   +3 more
doaj   +1 more source

Ocular manifestations of severe familial hypercholesterolemia

Heliyon
Background: To study ocular manifestations of patients with severe familial hypercholesterolemia (FH). Methods: In this population-based case-control study, patients suffering from severe familial hypercholesterolemia from the Lebanese Familial ...
Alaa Bou Ghannam, Rachid Istambouli, Mohamed S. Hamam, Jean M. Chalhoub, Akl C. Fahed, Rola N. Hamam   +5 more
doaj   +1 more source

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, EarlyView.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave, Ashish B. Jadhav, Nitin B. Waghamode, Shubham Khot, Rajiya Khan, Ravi Hole, Shankar M. Dhobale, Manoj Aswar, Keshav Raj Paudel   +8 more
wiley   +1 more source

Data on circulating leukocyte subpopulations and inflammatory proteins in children with familial hypercholesterolemia and healthy children

Data in Brief, 2017
The data in this relies on a previous publication: “Altered leukocyte distribution under hypercholesterolemia: a cross-sectional study in children with familial hypercholesterolemia” (Christensen et al. 2016) [1].
Jacob J. Christensen, Liv Osnes, Bente Halvorsen, Kjetil Retterstøl, Martin P. Bogsrud, Cecilie Wium, Arne Svilaas, Ingunn Narverud, Stine M. Ulven, Pål Aukrust, Kirsten B. Holven   +10 more
doaj   +1 more source

Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

Biomedicines, 2022
Familial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease.
Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli   +2 more
doaj   +1 more source

Reorganization of Innate Immune Cell Lipid Profiles by Bioinspired Meroterpenoids to Limit Inflammation

Advanced Science, EarlyView.
Resolution pharmacology is an emerging strategy to tackle inflammatory pathologies. Bioinspired meroterpenoids induce a lipid mediator class switch toward inflammation resolution in vitro and in vivo by targeting key nodes in lipid mediator biosynthesis and neutral lipid dynamics.
Lorenz Waltl, David Holubek, Klaus Speck, Raphael Wildermuth, Franz‐Lucas Haut, Stephan Permann, Immanuel Plangger, Christian Steinborn, Zhigang Rao, Danilo D'Avino, Ida Cerqua, Julia Stadler, Fiorentina Roviezzo, Peter Schlenke, Anita Siller, Harald Schennach, Solveigh C. Koeberle, Eva‐Maria Pferschy‐Wenzig, Antonietta Rossi, Thomas Magauer, Andreas Koeberle   +20 more
wiley   +1 more source

Mortality Among Patients With Familial Hypercholesterolemia: A Registry‐Based Study in Norway, 1992–2010

, 2014
Background Untreated patients with familial hypercholesterolemia are at increased risk of premature cardiovascular death. The primary aim of this study was to investigate whether this is also the case in the statin era.
Retterstøl, Kjetil, Veierød, Marit B., Mundal, Liv, Leren, Trond P., Iversen, Per Ole, Ose, Leiv, Borgan, Jens‐Kristian, Sarancic, Mirza   +7 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source